Name: rs1465966234
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1465966234

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:122412933-122412935 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: dupCAG
Variation Type: Indel Insertion and Deletion
Frequency: dupCAG=0.000004 (1/250994, GnomAD_exome)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PLEKHA1 : Inframe Insertion
Publications: 0 citations
Genomic View: See rs on genome

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
gnomAD - Exomes	Global	Study-wide	250994	- No frequency provided	dupCAG=0.000004
gnomAD - Exomes	European	Sub	135064	- No frequency provided	dupCAG=0.000007
gnomAD - Exomes	Asian	Sub	48972	- No frequency provided	dupCAG=0.00000
gnomAD - Exomes	American	Sub	34528	- No frequency provided	dupCAG=0.00000
gnomAD - Exomes	African	Sub	16250	- No frequency provided	dupCAG=0.00000
gnomAD - Exomes	Ashkenazi Jewish	Sub	10062	- No frequency provided	dupCAG=0.00000
gnomAD - Exomes	Other	Sub	6118	- No frequency provided	dupCAG=0.0000

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 10	NC_000010.11:g.122412933_122412935dup
GRCh37.p13 chr 10	NC_000010.10:g.124172449_124172451dup
PLEKHA1 RefSeqGene	NG_027823.1:g.43356_43358dup

Gene: PLEKHA1, pleckstrin homology domain containing A1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PLEKHA1 transcript variant 4	NM_001330178.2:c.356_358d… NM_001330178.2:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 3	NP_001317107.1:p.Asp120_S… NP_001317107.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 14	NM_001377242.1:c.356_358d… NM_001377242.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 3	NP_001364171.1:p.Asp120_S… NP_001364171.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 28	NM_001377256.1:c.230_232d… NM_001377256.1:c.230_232dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 12	NP_001364185.1:p.Asp78_Se… NP_001364185.1:p.Asp78_Ser79insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 20	NM_001377248.1:c.356_358d… NM_001377248.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 6	NP_001364177.1:p.Asp120_S… NP_001364177.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 24	NM_001377252.1:c.212_214d… NM_001377252.1:c.212_214dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 10	NP_001364181.1:p.Asp72_Se… NP_001364181.1:p.Asp72_Ser73insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 1	NM_021622.5:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 1	NP_067635.2:p.Asp120_Ser1… NP_067635.2:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 17	NM_001377245.1:c.356_358d… NM_001377245.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 4	NP_001364174.1:p.Asp120_S… NP_001364174.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 3	NM_001195608.2:c.356_358d… NM_001195608.2:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 2	NP_001182537.1:p.Asp120_S… NP_001182537.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 23	NM_001377251.1:c.323_325d… NM_001377251.1:c.323_325dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 9	NP_001364180.1:p.Asp109_S… NP_001364180.1:p.Asp109_Ser110insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 18	NM_001377246.1:c.356_358d… NM_001377246.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 4	NP_001364175.1:p.Asp120_S… NP_001364175.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 29	NM_001377257.1:c.212_214d… NM_001377257.1:c.212_214dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 13	NP_001364186.1:p.Asp72_Se… NP_001364186.1:p.Asp72_Ser73insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 22	NM_001377250.1:c.347_349d… NM_001377250.1:c.347_349dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 8	NP_001364179.1:p.Asp117_S… NP_001364179.1:p.Asp117_Ser118insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 21	NM_001377249.1:c.296_298d… NM_001377249.1:c.296_298dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 7	NP_001364178.1:p.Asp100_S… NP_001364178.1:p.Asp100_Ser101insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 30	NM_001377258.1:c.356_358d… NM_001377258.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 14	NP_001364187.1:p.Asp120_S… NP_001364187.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 12	NM_001377240.1:c.356_358d… NM_001377240.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 3	NP_001364169.1:p.Asp120_S… NP_001364169.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 26	NM_001377254.1:c.212_214d… NM_001377254.1:c.212_214dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 10	NP_001364183.1:p.Asp72_Se… NP_001364183.1:p.Asp72_Ser73insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 16	NM_001377244.1:c.356_358d… NM_001377244.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 3	NP_001364173.1:p.Asp120_S… NP_001364173.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 19	NM_001377247.1:c.323_325d… NM_001377247.1:c.323_325dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 5	NP_001364176.1:p.Asp109_S… NP_001364176.1:p.Asp109_Ser110insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 5	NM_001377230.1:c.356_358d… NM_001377230.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 1	NP_001364159.1:p.Asp120_S… NP_001364159.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 25	NM_001377253.1:c.212_214d… NM_001377253.1:c.212_214dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 10	NP_001364182.1:p.Asp72_Se… NP_001364182.1:p.Asp72_Ser73insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 7	NM_001377232.1:c.356_358d… NM_001377232.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 1	NP_001364161.1:p.Asp120_S… NP_001364161.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 8	NM_001377234.1:c.356_358d… NM_001377234.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 1	NP_001364163.1:p.Asp120_S… NP_001364163.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 11	NM_001377238.1:c.356_358d… NM_001377238.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 2	NP_001364167.1:p.Asp120_S… NP_001364167.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 15	NM_001377243.1:c.356_358d… NM_001377243.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 3	NP_001364172.1:p.Asp120_S… NP_001364172.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 13	NM_001377241.1:c.356_358d… NM_001377241.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 3	NP_001364170.1:p.Asp120_S… NP_001364170.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 27	NM_001377255.1:c.212_214d… NM_001377255.1:c.212_214dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 11	NP_001364184.1:p.Asp72_Se… NP_001364184.1:p.Asp72_Ser73insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 10	NM_001377237.1:c.356_358d… NM_001377237.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 2	NP_001364166.1:p.Asp120_S… NP_001364166.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 6	NM_001377231.1:c.356_358d… NM_001377231.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 1	NP_001364160.1:p.Asp120_S… NP_001364160.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 9	NM_001377235.1:c.356_358d… NM_001377235.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 1	NP_001364164.1:p.Asp120_S… NP_001364164.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 2	NM_001001974.4:c.356_358d… NM_001001974.4:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform 1	NP_001001974.1:p.Asp120_S… NP_001001974.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant 34	NR_165164.1:n.499_501dup	N/A	Non Coding Transcript Variant
PLEKHA1 transcript variant 35	NR_165165.1:n.593_595dup	N/A	Non Coding Transcript Variant
PLEKHA1 transcript variant 32	NR_165161.1:n.545_547dup	N/A	Non Coding Transcript Variant
PLEKHA1 transcript variant 33	NR_165162.1:n.447_449dup	N/A	Non Coding Transcript Variant
PLEKHA1 transcript variant 31	NR_165160.1:n.593_595dup	N/A	Non Coding Transcript Variant
PLEKHA1 transcript variant X1	XM_017016478.3:c.356_358d… XM_017016478.3:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X1	XP_016871967.1:p.Asp120_S… XP_016871967.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X2	XM_011540018.2:c.356_358d… XM_011540018.2:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X1	XP_011538320.1:p.Asp120_S… XP_011538320.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X3	XM_011540017.2:c.356_358d… XM_011540017.2:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X1	XP_011538319.1:p.Asp120_S… XP_011538319.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X4	XM_011540021.2:c.356_358d… XM_011540021.2:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X1	XP_011538323.1:p.Asp120_S… XP_011538323.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X5	XM_024448109.2:c.356_358d… XM_024448109.2:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X1	XP_024303877.1:p.Asp120_S… XP_024303877.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X6	XM_047425598.1:c.356_358d… XM_047425598.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X1	XP_047281554.1:p.Asp120_S… XP_047281554.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X7	XM_047425599.1:c.356_358d… XM_047425599.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X1	XP_047281555.1:p.Asp120_S… XP_047281555.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X8	XM_024448108.2:c.356_358d… XM_024448108.2:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X1	XP_024303876.1:p.Asp120_S… XP_024303876.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X9	XM_011540019.2:c.356_358d… XM_011540019.2:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X1	XP_011538321.1:p.Asp120_S… XP_011538321.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X10	XM_024448110.2:c.356_358d… XM_024448110.2:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X1	XP_024303878.1:p.Asp120_S… XP_024303878.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X11	XM_011540024.2:c.356_358d… XM_011540024.2:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X1	XP_011538326.1:p.Asp120_S… XP_011538326.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X12	XM_011540022.2:c.356_358d… XM_011540022.2:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X1	XP_011538324.1:p.Asp120_S… XP_011538324.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X13	XM_024448107.2:c.356_358d… XM_024448107.2:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X1	XP_024303875.1:p.Asp120_S… XP_024303875.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X14	XM_047425600.1:c.356_358d… XM_047425600.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X1	XP_047281556.1:p.Asp120_S… XP_047281556.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X15	XM_047425602.1:c.356_358d… XM_047425602.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X1	XP_047281558.1:p.Asp120_S… XP_047281558.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X16	XM_017016479.3:c.356_358d… XM_017016479.3:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X2	XP_016871968.1:p.Asp120_S… XP_016871968.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X17	XM_047425603.1:c.356_358d… XM_047425603.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X3	XP_047281559.1:p.Asp120_S… XP_047281559.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X18	XM_024448113.2:c.356_358d… XM_024448113.2:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X3	XP_024303881.1:p.Asp120_S… XP_024303881.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X19	XM_017016482.2:c.356_358d… XM_017016482.2:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X3	XP_016871971.1:p.Asp120_S… XP_016871971.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X20	XM_047425604.1:c.356_358d… XM_047425604.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X3	XP_047281560.1:p.Asp120_S… XP_047281560.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X21	XM_047425605.1:c.356_358d… XM_047425605.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X3	XP_047281561.1:p.Asp120_S… XP_047281561.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X22	XM_024448114.2:c.356_358d… XM_024448114.2:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X3	XP_024303882.1:p.Asp120_S… XP_024303882.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X23	XM_047425606.1:c.356_358d… XM_047425606.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X3	XP_047281562.1:p.Asp120_S… XP_047281562.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X24	XM_017016484.2:c.356_358d… XM_017016484.2:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X4	XP_016871973.1:p.Asp120_S… XP_016871973.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X25	XM_017016483.2:c.356_358d… XM_017016483.2:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X4	XP_016871972.1:p.Asp120_S… XP_016871972.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X26	XM_047425607.1:c.356_358d… XM_047425607.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X4	XP_047281563.1:p.Asp120_S… XP_047281563.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X27	XM_047425608.1:c.356_358d… XM_047425608.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X4	XP_047281564.1:p.Asp120_S… XP_047281564.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X28	XM_047425609.1:c.356_358d… XM_047425609.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X4	XP_047281565.1:p.Asp120_S… XP_047281565.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X29	XM_047425610.1:c.356_358d… XM_047425610.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X4	XP_047281566.1:p.Asp120_S… XP_047281566.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X30	XM_047425611.1:c.356_358d… XM_047425611.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X4	XP_047281567.1:p.Asp120_S… XP_047281567.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X31	XM_017016487.2:c.356_358d… XM_017016487.2:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X5	XP_016871976.1:p.Asp120_S… XP_016871976.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X32	XM_047425612.1:c.356_358d… XM_047425612.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X5	XP_047281568.1:p.Asp120_S… XP_047281568.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion
PLEKHA1 transcript variant X33	XM_047425613.1:c.356_358d… XM_047425613.1:c.356_358dup	[GAC] > A [GCAGAC]	Coding Sequence Variant
pleckstrin homology domain-containing family A member 1 isoform X5	XP_047281569.1:p.Asp120_S… XP_047281569.1:p.Asp120_Ser121insAla	() > A (Ala)	Inframe Insertion

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	CAG=	dupCAG
GRCh38.p14 chr 10	NC_000010.11:g.122412933_122412935=	NC_000010.11:g.122412933_122412935dup
GRCh37.p13 chr 10	NC_000010.10:g.124172449_124172451=	NC_000010.10:g.124172449_124172451dup
PLEKHA1 RefSeqGene	NG_027823.1:g.43356_43358=	NG_027823.1:g.43356_43358dup
PLEKHA1 transcript variant 1	NM_021622.4:c.356_358=	NM_021622.4:c.356_358dup
PLEKHA1 transcript variant 1	NM_021622.5:c.356_358=	NM_021622.5:c.356_358dup
PLEKHA1 transcript variant 2	NM_001001974.2:c.356_358=	NM_001001974.2:c.356_358dup
PLEKHA1 transcript variant 2	NM_001001974.4:c.356_358=	NM_001001974.4:c.356_358dup
PLEKHA1 transcript variant 2	NM_001001974.3:c.356_358=	NM_001001974.3:c.356_358dup
PLEKHA1 transcript variant 3	NM_001195608.1:c.356_358=	NM_001195608.1:c.356_358dup
PLEKHA1 transcript variant 3	NM_001195608.2:c.356_358=	NM_001195608.2:c.356_358dup
PLEKHA1 transcript variant X1	XM_017016478.3:c.356_358=	XM_017016478.3:c.356_358dup
PLEKHA1 transcript variant X1	XM_017016478.2:c.356_358=	XM_017016478.2:c.356_358dup
PLEKHA1 transcript variant X1	XM_017016478.1:c.356_358=	XM_017016478.1:c.356_358dup
PLEKHA1 transcript variant X16	XM_017016479.3:c.356_358=	XM_017016479.3:c.356_358dup
PLEKHA1 transcript variant X12	XM_017016479.2:c.356_358=	XM_017016479.2:c.356_358dup
PLEKHA1 transcript variant X8	XM_017016479.1:c.356_358=	XM_017016479.1:c.356_358dup
PLEKHA1 transcript variant X18	XM_024448113.2:c.356_358=	XM_024448113.2:c.356_358dup
PLEKHA1 transcript variant X18	XM_024448113.1:c.356_358=	XM_024448113.1:c.356_358dup
PLEKHA1 transcript variant X9	XM_011540019.2:c.356_358=	XM_011540019.2:c.356_358dup
PLEKHA1 transcript variant X5	XM_011540019.1:c.356_358=	XM_011540019.1:c.356_358dup
PLEKHA1 transcript variant X11	XM_011540024.2:c.356_358=	XM_011540024.2:c.356_358dup
PLEKHA1 transcript variant X11	XM_011540024.1:c.356_358=	XM_011540024.1:c.356_358dup
PLEKHA1 transcript variant X13	XM_024448107.2:c.356_358=	XM_024448107.2:c.356_358dup
PLEKHA1 transcript variant X4	XM_024448107.1:c.356_358=	XM_024448107.1:c.356_358dup
PLEKHA1 transcript variant X8	XM_024448108.2:c.356_358=	XM_024448108.2:c.356_358dup
PLEKHA1 transcript variant X6	XM_024448108.1:c.356_358=	XM_024448108.1:c.356_358dup
PLEKHA1 transcript variant X2	XM_011540018.2:c.356_358=	XM_011540018.2:c.356_358dup
PLEKHA1 transcript variant X3	XM_011540018.1:c.356_358=	XM_011540018.1:c.356_358dup
PLEKHA1 transcript variant X10	XM_024448110.2:c.356_358=	XM_024448110.2:c.356_358dup
PLEKHA1 transcript variant X10	XM_024448110.1:c.356_358=	XM_024448110.1:c.356_358dup
PLEKHA1 transcript variant X3	XM_011540017.2:c.356_358=	XM_011540017.2:c.356_358dup
PLEKHA1 transcript variant X2	XM_011540017.1:c.356_358=	XM_011540017.1:c.356_358dup
PLEKHA1 transcript variant X12	XM_011540022.2:c.356_358=	XM_011540022.2:c.356_358dup
PLEKHA1 transcript variant X9	XM_011540022.1:c.356_358=	XM_011540022.1:c.356_358dup
PLEKHA1 transcript variant X25	XM_017016483.2:c.356_358=	XM_017016483.2:c.356_358dup
PLEKHA1 transcript variant X22	XM_017016483.1:c.356_358=	XM_017016483.1:c.356_358dup
PLEKHA1 transcript variant X24	XM_017016484.2:c.356_358=	XM_017016484.2:c.356_358dup
PLEKHA1 transcript variant X23	XM_017016484.1:c.356_358=	XM_017016484.1:c.356_358dup
PLEKHA1 transcript variant X31	XM_017016487.2:c.356_358=	XM_017016487.2:c.356_358dup
PLEKHA1 transcript variant X26	XM_017016487.1:c.356_358=	XM_017016487.1:c.356_358dup
PLEKHA1 transcript variant X22	XM_024448114.2:c.356_358=	XM_024448114.2:c.356_358dup
PLEKHA1 transcript variant X20	XM_024448114.1:c.356_358=	XM_024448114.1:c.356_358dup
PLEKHA1 transcript variant X5	XM_024448109.2:c.356_358=	XM_024448109.2:c.356_358dup
PLEKHA1 transcript variant X8	XM_024448109.1:c.356_358=	XM_024448109.1:c.356_358dup
PLEKHA1 transcript variant X19	XM_017016482.2:c.356_358=	XM_017016482.2:c.356_358dup
PLEKHA1 transcript variant X19	XM_017016482.1:c.356_358=	XM_017016482.1:c.356_358dup
PLEKHA1 transcript variant X4	XM_011540021.2:c.356_358=	XM_011540021.2:c.356_358dup
PLEKHA1 transcript variant X7	XM_011540021.1:c.356_358=	XM_011540021.1:c.356_358dup
PLEKHA1 transcript variant 4	NM_001330178.2:c.356_358=	NM_001330178.2:c.356_358dup
PLEKHA1 transcript variant 4	NM_001330178.1:c.356_358=	NM_001330178.1:c.356_358dup
PLEKHA1 transcript variant 6	NM_001377231.1:c.356_358=	NM_001377231.1:c.356_358dup
PLEKHA1 transcript variant 14	NM_001377242.1:c.356_358=	NM_001377242.1:c.356_358dup
PLEKHA1 transcript variant X15	XM_047425602.1:c.356_358=	XM_047425602.1:c.356_358dup
PLEKHA1 transcript variant X17	XM_047425603.1:c.356_358=	XM_047425603.1:c.356_358dup
PLEKHA1 transcript variant X26	XM_047425607.1:c.356_358=	XM_047425607.1:c.356_358dup
PLEKHA1 transcript variant X20	XM_047425604.1:c.356_358=	XM_047425604.1:c.356_358dup
PLEKHA1 transcript variant 15	NM_001377243.1:c.356_358=	NM_001377243.1:c.356_358dup
PLEKHA1 transcript variant X27	XM_047425608.1:c.356_358=	XM_047425608.1:c.356_358dup
PLEKHA1 transcript variant 7	NM_001377232.1:c.356_358=	NM_001377232.1:c.356_358dup
PLEKHA1 transcript variant 8	NM_001377234.1:c.356_358=	NM_001377234.1:c.356_358dup
PLEKHA1 transcript variant 16	NM_001377244.1:c.356_358=	NM_001377244.1:c.356_358dup
PLEKHA1 transcript variant X7	XM_047425599.1:c.356_358=	XM_047425599.1:c.356_358dup
PLEKHA1 transcript variant X29	XM_047425610.1:c.356_358=	XM_047425610.1:c.356_358dup
PLEKHA1 transcript variant X6	XM_047425598.1:c.356_358=	XM_047425598.1:c.356_358dup
PLEKHA1 transcript variant X32	XM_047425612.1:c.356_358=	XM_047425612.1:c.356_358dup
PLEKHA1 transcript variant X14	XM_047425600.1:c.356_358=	XM_047425600.1:c.356_358dup
PLEKHA1 transcript variant 9	NM_001377235.1:c.356_358=	NM_001377235.1:c.356_358dup
PLEKHA1 transcript variant 11	NM_001377238.1:c.356_358=	NM_001377238.1:c.356_358dup
PLEKHA1 transcript variant X30	XM_047425611.1:c.356_358=	XM_047425611.1:c.356_358dup
PLEKHA1 transcript variant X33	XM_047425613.1:c.356_358=	XM_047425613.1:c.356_358dup
PLEKHA1 transcript variant 31	NR_165160.1:n.593_595=	NR_165160.1:n.593_595dup
PLEKHA1 transcript variant 26	NM_001377254.1:c.212_214=	NM_001377254.1:c.212_214dup
PLEKHA1 transcript variant 10	NM_001377237.1:c.356_358=	NM_001377237.1:c.356_358dup
PLEKHA1 transcript variant 18	NM_001377246.1:c.356_358=	NM_001377246.1:c.356_358dup
PLEKHA1 transcript variant X28	XM_047425609.1:c.356_358=	XM_047425609.1:c.356_358dup
PLEKHA1 transcript variant 20	NM_001377248.1:c.356_358=	NM_001377248.1:c.356_358dup
PLEKHA1 transcript variant X23	XM_047425606.1:c.356_358=	XM_047425606.1:c.356_358dup
PLEKHA1 transcript variant 35	NR_165165.1:n.593_595=	NR_165165.1:n.593_595dup
PLEKHA1 transcript variant X21	XM_047425605.1:c.356_358=	XM_047425605.1:c.356_358dup
PLEKHA1 transcript variant 32	NR_165161.1:n.545_547=	NR_165161.1:n.545_547dup
PLEKHA1 transcript variant 12	NM_001377240.1:c.356_358=	NM_001377240.1:c.356_358dup
PLEKHA1 transcript variant 23	NM_001377251.1:c.323_325=	NM_001377251.1:c.323_325dup
PLEKHA1 transcript variant 17	NM_001377245.1:c.356_358=	NM_001377245.1:c.356_358dup
PLEKHA1 transcript variant 5	NM_001377230.1:c.356_358=	NM_001377230.1:c.356_358dup
PLEKHA1 transcript variant 21	NM_001377249.1:c.296_298=	NM_001377249.1:c.296_298dup
PLEKHA1 transcript variant 28	NM_001377256.1:c.230_232=	NM_001377256.1:c.230_232dup
PLEKHA1 transcript variant 13	NM_001377241.1:c.356_358=	NM_001377241.1:c.356_358dup
PLEKHA1 transcript variant 19	NM_001377247.1:c.323_325=	NM_001377247.1:c.323_325dup
PLEKHA1 transcript variant 22	NM_001377250.1:c.347_349=	NM_001377250.1:c.347_349dup
PLEKHA1 transcript variant 34	NR_165164.1:n.499_501=	NR_165164.1:n.499_501dup
PLEKHA1 transcript variant 27	NM_001377255.1:c.212_214=	NM_001377255.1:c.212_214dup
PLEKHA1 transcript variant 33	NR_165162.1:n.447_449=	NR_165162.1:n.447_449dup
PLEKHA1 transcript variant 29	NM_001377257.1:c.212_214=	NM_001377257.1:c.212_214dup
PLEKHA1 transcript variant 30	NM_001377258.1:c.356_358=	NM_001377258.1:c.356_358dup
PLEKHA1 transcript variant 25	NM_001377253.1:c.212_214=	NM_001377253.1:c.212_214dup
PLEKHA1 transcript variant 24	NM_001377252.1:c.212_214=	NM_001377252.1:c.212_214dup
pleckstrin homology domain-containing family A member 1 isoform 1	NP_067635.2:p.Ser119_Asp120=	NP_067635.2:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform 1	NP_001001974.1:p.Ser119_Asp120=	NP_001001974.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform 2	NP_001182537.1:p.Ser119_Asp120=	NP_001182537.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X1	XP_016871967.1:p.Ser119_Asp120=	XP_016871967.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X2	XP_016871968.1:p.Ser119_Asp120=	XP_016871968.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X3	XP_024303881.1:p.Ser119_Asp120=	XP_024303881.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X1	XP_011538321.1:p.Ser119_Asp120=	XP_011538321.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X1	XP_011538326.1:p.Ser119_Asp120=	XP_011538326.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X1	XP_024303875.1:p.Ser119_Asp120=	XP_024303875.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X1	XP_024303876.1:p.Ser119_Asp120=	XP_024303876.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X1	XP_011538320.1:p.Ser119_Asp120=	XP_011538320.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X1	XP_024303878.1:p.Ser119_Asp120=	XP_024303878.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X1	XP_011538319.1:p.Ser119_Asp120=	XP_011538319.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X1	XP_011538324.1:p.Ser119_Asp120=	XP_011538324.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X4	XP_016871972.1:p.Ser119_Asp120=	XP_016871972.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X4	XP_016871973.1:p.Ser119_Asp120=	XP_016871973.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X5	XP_016871976.1:p.Ser119_Asp120=	XP_016871976.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X3	XP_024303882.1:p.Ser119_Asp120=	XP_024303882.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X1	XP_024303877.1:p.Ser119_Asp120=	XP_024303877.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X3	XP_016871971.1:p.Ser119_Asp120=	XP_016871971.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X1	XP_011538323.1:p.Ser119_Asp120=	XP_011538323.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform 3	NP_001317107.1:p.Ser119_Asp120=	NP_001317107.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform 1	NP_001364160.1:p.Ser119_Asp120=	NP_001364160.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform 3	NP_001364171.1:p.Ser119_Asp120=	NP_001364171.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X1	XP_047281558.1:p.Ser119_Asp120=	XP_047281558.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X3	XP_047281559.1:p.Ser119_Asp120=	XP_047281559.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X4	XP_047281563.1:p.Ser119_Asp120=	XP_047281563.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X3	XP_047281560.1:p.Ser119_Asp120=	XP_047281560.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform 3	NP_001364172.1:p.Ser119_Asp120=	NP_001364172.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X4	XP_047281564.1:p.Ser119_Asp120=	XP_047281564.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform 1	NP_001364161.1:p.Ser119_Asp120=	NP_001364161.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform 1	NP_001364163.1:p.Ser119_Asp120=	NP_001364163.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform 3	NP_001364173.1:p.Ser119_Asp120=	NP_001364173.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X1	XP_047281555.1:p.Ser119_Asp120=	XP_047281555.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X4	XP_047281566.1:p.Ser119_Asp120=	XP_047281566.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X1	XP_047281554.1:p.Ser119_Asp120=	XP_047281554.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X5	XP_047281568.1:p.Ser119_Asp120=	XP_047281568.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X1	XP_047281556.1:p.Ser119_Asp120=	XP_047281556.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform 1	NP_001364164.1:p.Ser119_Asp120=	NP_001364164.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform 2	NP_001364167.1:p.Ser119_Asp120=	NP_001364167.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X4	XP_047281567.1:p.Ser119_Asp120=	XP_047281567.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X5	XP_047281569.1:p.Ser119_Asp120=	XP_047281569.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform 10	NP_001364183.1:p.Ser71_Asp72=	NP_001364183.1:p.Asp72_Ser73insAla
pleckstrin homology domain-containing family A member 1 isoform 2	NP_001364166.1:p.Ser119_Asp120=	NP_001364166.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform 4	NP_001364175.1:p.Ser119_Asp120=	NP_001364175.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X4	XP_047281565.1:p.Ser119_Asp120=	XP_047281565.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform 6	NP_001364177.1:p.Ser119_Asp120=	NP_001364177.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X3	XP_047281562.1:p.Ser119_Asp120=	XP_047281562.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform X3	XP_047281561.1:p.Ser119_Asp120=	XP_047281561.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform 3	NP_001364169.1:p.Ser119_Asp120=	NP_001364169.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform 9	NP_001364180.1:p.Ser108_Asp109=	NP_001364180.1:p.Asp109_Ser110insAla
pleckstrin homology domain-containing family A member 1 isoform 4	NP_001364174.1:p.Ser119_Asp120=	NP_001364174.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform 1	NP_001364159.1:p.Ser119_Asp120=	NP_001364159.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform 7	NP_001364178.1:p.Ser99_Asp100=	NP_001364178.1:p.Asp100_Ser101insAla
pleckstrin homology domain-containing family A member 1 isoform 12	NP_001364185.1:p.Ser77_Asp78=	NP_001364185.1:p.Asp78_Ser79insAla
pleckstrin homology domain-containing family A member 1 isoform 3	NP_001364170.1:p.Ser119_Asp120=	NP_001364170.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform 5	NP_001364176.1:p.Ser108_Asp109=	NP_001364176.1:p.Asp109_Ser110insAla
pleckstrin homology domain-containing family A member 1 isoform 8	NP_001364179.1:p.Ser116_Asp117=	NP_001364179.1:p.Asp117_Ser118insAla
pleckstrin homology domain-containing family A member 1 isoform 11	NP_001364184.1:p.Ser71_Asp72=	NP_001364184.1:p.Asp72_Ser73insAla
pleckstrin homology domain-containing family A member 1 isoform 13	NP_001364186.1:p.Ser71_Asp72=	NP_001364186.1:p.Asp72_Ser73insAla
pleckstrin homology domain-containing family A member 1 isoform 14	NP_001364187.1:p.Ser119_Asp120=	NP_001364187.1:p.Asp120_Ser121insAla
pleckstrin homology domain-containing family A member 1 isoform 10	NP_001364182.1:p.Ser71_Asp72=	NP_001364182.1:p.Asp72_Ser73insAla
pleckstrin homology domain-containing family A member 1 isoform 10	NP_001364181.1:p.Ser71_Asp72=	NP_001364181.1:p.Asp72_Ser73insAla

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

1 SubSNP, 1 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GNOMAD	ss2738578215	Nov 08, 2017 (151)
2	gnomAD - Exomes	NC_000010.10 - 124172449	Jul 13, 2019 (153)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
7782813, ss2738578215	NC_000010.10:124172448::CAG	NC_000010.11:122412932:CAG:CAGCAG	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1465966234

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1465966234