Links from Gene
Items: 1 to 20 of 1000
1.
rs1491582741 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GG
[Show Flanks]
- Chromosome:
- 5:35839206
(GRCh38)
5:35839309
(GRCh37)
- Canonical SPDI:
- NC_000005.10:35839206:G:GGG
- Validated:
- by frequency,by alfa
- MAF:
GGG=0./0
(
ALFA)
GG=0.0001/6
(GnomAD)
- HGVS:
2.
rs1491580137 has merged into rs1333177258 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-,GTGT
[Show Flanks]
- Chromosome:
- 5:35750997
(GRCh38)
5:35751099
(GRCh37)
- Canonical SPDI:
- NC_000005.10:35750995:TGT:T,NC_000005.10:35750995:TGT:TGTGT
- Gene:
- SPEF2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGT=0./0
(
ALFA)
TG=0.00167/1
(NorthernSweden)
TG=0.00287/48
(TOMMO)
TG=0.00443/8
(Korea1K)
- HGVS:
3.
rs1491579145 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT
[Show Flanks]
- Chromosome:
- 5:35703158
(GRCh38)
5:35703260
(GRCh37)
- Canonical SPDI:
- NC_000005.10:35703148:TATATATATAT:TATATATAT,NC_000005.10:35703148:TATATATATAT:TATATATATATAT
- Gene:
- SPEF2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATAT=0.000061/1
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000035/1
(TOMMO)
TA=0.000223/1
(Estonian)
- HGVS:
4.
rs1491559582 has merged into rs4024113 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 5:35822062
(GRCh38)
5:35822164
(GRCh37)
- Canonical SPDI:
- NC_000005.10:35822051:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTG,NC_000005.10:35822051:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000005.10:35822051:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000005.10:35822051:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000005.10:35822051:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000005.10:35822051:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000005.10:35822051:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:35822051:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:35822051:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:35822051:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:35822051:TGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTG=0./0
(
ALFA)
TG=0.0142/3
(Vietnamese)
-=0.0929/358
(ALSPAC)
TGTG=0.4431/2219
(1000Genomes)
- HGVS:
NC_000005.10:g.35822052TG[5], NC_000005.10:g.35822052TG[6], NC_000005.10:g.35822052TG[7], NC_000005.10:g.35822052TG[8], NC_000005.10:g.35822052TG[9], NC_000005.10:g.35822052TG[10], NC_000005.10:g.35822052TG[11], NC_000005.10:g.35822052TG[13], NC_000005.10:g.35822052TG[14], NC_000005.10:g.35822052TG[15], NC_000005.10:g.35822052TG[16], NC_000005.9:g.35822154TG[5], NC_000005.9:g.35822154TG[6], NC_000005.9:g.35822154TG[7], NC_000005.9:g.35822154TG[8], NC_000005.9:g.35822154TG[9], NC_000005.9:g.35822154TG[10], NC_000005.9:g.35822154TG[11], NC_000005.9:g.35822154TG[13], NC_000005.9:g.35822154TG[14], NC_000005.9:g.35822154TG[15], NC_000005.9:g.35822154TG[16]
5.
rs1491541046 has merged into rs58640085 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 5:35846501
(GRCh38)
5:35846603
(GRCh37)
- Canonical SPDI:
- NC_000005.10:35846490:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:35846490:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:35846490:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:35846490:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:35846490:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:35846490:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA
- Validated:
- by cluster
- HGVS:
NC_000005.10:g.35846501_35846506del, NC_000005.10:g.35846502_35846506del, NC_000005.10:g.35846503_35846506del, NC_000005.10:g.35846504_35846506del, NC_000005.10:g.35846505_35846506del, NC_000005.10:g.35846506del, NC_000005.9:g.35846603_35846608del, NC_000005.9:g.35846604_35846608del, NC_000005.9:g.35846605_35846608del, NC_000005.9:g.35846606_35846608del, NC_000005.9:g.35846607_35846608del, NC_000005.9:g.35846608del
6.
rs1491537342 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 5:35770025
(GRCh38)
5:35770127
(GRCh37)
- Canonical SPDI:
- NC_000005.10:35770024:AT:
- Gene:
- SPEF2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00012/11
(GnomAD)
- HGVS:
7.
rs1491528062 has merged into rs60768948 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-,GTGT
[Show Flanks]
- Chromosome:
- 5:35751043
(GRCh38)
5:35751145
(GRCh37)
- Canonical SPDI:
- NC_000005.10:35751041:TGT:T,NC_000005.10:35751041:TGT:TGTGT
- Gene:
- SPEF2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGT=0./0
(
ALFA)
TG=0.00298/4
(Korea1K)
- HGVS:
8.
rs1491524547 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->ACATAT,ACATATGT,AT,ATAT,ATATAT,ATATATAT,ATGTAT
[Show Flanks]
- Chromosome:
- 5:35751024
(GRCh38)
5:35751127
(GRCh37)
- Canonical SPDI:
- NC_000005.10:35751024::ACATAT,NC_000005.10:35751024::ACATATGT,NC_000005.10:35751024::AT,NC_000005.10:35751024::ATAT,NC_000005.10:35751024::ATATAT,NC_000005.10:35751024::ATATATAT,NC_000005.10:35751024::ATGTAT
- Gene:
- SPEF2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000005.10:g.35751024_35751025insACATAT, NC_000005.10:g.35751024_35751025insACATATGT, NC_000005.10:g.35751024_35751025insAT, NC_000005.10:g.35751024_35751025insATAT, NC_000005.10:g.35751024_35751025insATATAT, NC_000005.10:g.35751024_35751025insATATATAT, NC_000005.10:g.35751024_35751025insATGTAT, NC_000005.9:g.35751126_35751127insACATAT, NC_000005.9:g.35751126_35751127insACATATGT, NC_000005.9:g.35751126_35751127insAT, NC_000005.9:g.35751126_35751127insATAT, NC_000005.9:g.35751126_35751127insATATAT, NC_000005.9:g.35751126_35751127insATATATAT, NC_000005.9:g.35751126_35751127insATGTAT
10.
rs1491483716 has merged into rs10627412 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTGTG>-,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 5:35770008
(GRCh38)
5:35770110
(GRCh37)
- Canonical SPDI:
- NC_000005.10:35769989:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000005.10:35769989:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:35769989:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:35769989:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:35769989:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:35769989:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:35769989:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:35769989:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:35769989:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:35769989:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:35769989:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:35769989:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- SPEF2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
-=0.2182/809
(TWINSUK)
-=0.2351/906
(ALSPAC)
- HGVS:
NC_000005.10:g.35769990TG[9], NC_000005.10:g.35769990TG[11], NC_000005.10:g.35769990TG[12], NC_000005.10:g.35769990TG[13], NC_000005.10:g.35769990TG[14], NC_000005.10:g.35769990TG[15], NC_000005.10:g.35769990TG[16], NC_000005.10:g.35769990TG[18], NC_000005.10:g.35769990TG[19], NC_000005.10:g.35769990TG[20], NC_000005.10:g.35769990TG[21], NC_000005.10:g.35769990TG[22], NC_000005.9:g.35770092TG[9], NC_000005.9:g.35770092TG[11], NC_000005.9:g.35770092TG[12], NC_000005.9:g.35770092TG[13], NC_000005.9:g.35770092TG[14], NC_000005.9:g.35770092TG[15], NC_000005.9:g.35770092TG[16], NC_000005.9:g.35770092TG[18], NC_000005.9:g.35770092TG[19], NC_000005.9:g.35770092TG[20], NC_000005.9:g.35770092TG[21], NC_000005.9:g.35770092TG[22]
11.
rs1491470887 has merged into rs929991741 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA
[Show Flanks]
- Chromosome:
- 5:35760376
(GRCh38)
5:35760478
(GRCh37)
- Canonical SPDI:
- NC_000005.10:35760361:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:35760361:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:35760361:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- SPEF2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.00018/3
(TOMMO)
-=0.00655/12
(Korea1K)
- HGVS:
14.
rs1491387916 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 5:35751067
(GRCh38)
5:35751169
(GRCh37)
- Canonical SPDI:
- NC_000005.10:35751065:TGT:T
- Gene:
- SPEF2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.01292/185
(TOMMO)
-=0.01446/454
(GnomAD)
-=0.01883/25
(Korea1K)
- HGVS:
15.
rs1491352075 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 5:35751056
(GRCh38)
5:35751158
(GRCh37)
- Canonical SPDI:
- NC_000005.10:35751055:CG:
- Gene:
- SPEF2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00025/3
(
ALFA)
-=0.00056/13
(TOMMO)
- HGVS:
16.
rs1491326515 has merged into rs1241409802 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGAGAGAGAGAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
[Show Flanks]
- Chromosome:
- 5:35839227
(GRCh38)
5:35839329
(GRCh37)
- Canonical SPDI:
- NC_000005.10:35839205:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000005.10:35839205:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000005.10:35839205:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000005.10:35839205:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000005.10:35839205:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000005.10:35839205:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000005.10:35839205:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000005.10:35839205:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000005.10:35839205:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000005.10:35839205:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000005.10:35839205:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000005.10:35839205:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000005.10:35839205:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000005.10:35839205:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000005.10:35839205:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000005.10:35839205:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAGAGAGAGAGAGAGA=0./0
(
ALFA)
-=0.0485/29
(NorthernSweden)
- HGVS:
NC_000005.10:g.35839207GA[10], NC_000005.10:g.35839207GA[11], NC_000005.10:g.35839207GA[12], NC_000005.10:g.35839207GA[13], NC_000005.10:g.35839207GA[14], NC_000005.10:g.35839207GA[15], NC_000005.10:g.35839207GA[16], NC_000005.10:g.35839207GA[17], NC_000005.10:g.35839207GA[18], NC_000005.10:g.35839207GA[20], NC_000005.10:g.35839207GA[21], NC_000005.10:g.35839207GA[22], NC_000005.10:g.35839207GA[23], NC_000005.10:g.35839207GA[24], NC_000005.10:g.35839207GA[25], NC_000005.10:g.35839207GA[26], NC_000005.9:g.35839309GA[10], NC_000005.9:g.35839309GA[11], NC_000005.9:g.35839309GA[12], NC_000005.9:g.35839309GA[13], NC_000005.9:g.35839309GA[14], NC_000005.9:g.35839309GA[15], NC_000005.9:g.35839309GA[16], NC_000005.9:g.35839309GA[17], NC_000005.9:g.35839309GA[18], NC_000005.9:g.35839309GA[20], NC_000005.9:g.35839309GA[21], NC_000005.9:g.35839309GA[22], NC_000005.9:g.35839309GA[23], NC_000005.9:g.35839309GA[24], NC_000005.9:g.35839309GA[25], NC_000005.9:g.35839309GA[26]
17.
rs1491322683 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GTGTAC,GTGTGC
[Show Flanks]
- Chromosome:
- 5:35842281
(GRCh38)
5:35842384
(GRCh37)
- Canonical SPDI:
- NC_000005.10:35842281::GTGTAC,NC_000005.10:35842281::GTGTGC
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGC=0./0
(
ALFA)
GTGTAC=0.00568/9
(GnomAD)
GTGTAC=0.00746/4
(NorthernSweden)
- HGVS:
18.
rs1491319192 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CATATATATA
[Show Flanks]
- Chromosome:
- 5:35751068
(GRCh38)
5:35751171
(GRCh37)
- Canonical SPDI:
- NC_000005.10:35751068:ATATATATA:ATATATATACATATATATA
- Gene:
- SPEF2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATACATATATATA=0./0
(
ALFA)
ATATATATAC=0.0015/56
(GnomAD)
- HGVS:
19.
rs1491295568 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 5:35704587
(GRCh38)
5:35704690
(GRCh37)
- Canonical SPDI:
- NC_000005.10:35704587:T:TT
- Gene:
- SPEF2 (Varview)
- Functional Consequence:
- frameshift_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000005.10:g.35704588dup, NC_000005.9:g.35704690dup, XM_005248376.5:c.2433dup, XM_005248376.4:c.2433dup, XM_005248376.3:c.2433dup, XM_005248376.2:c.2433dup, XM_005248376.1:c.2433dup, XM_005248377.5:c.2418dup, XM_005248377.4:c.2418dup, XM_005248377.3:c.2418dup, XM_005248377.2:c.2418dup, XM_005248377.1:c.2418dup, XM_005248378.5:c.2433dup, XM_005248378.4:c.2433dup, XM_005248378.3:c.2433dup, XM_005248378.2:c.2433dup, XM_005248378.1:c.2433dup, XM_011514135.4:c.2433dup, XM_011514135.3:c.2433dup, XM_011514135.2:c.2433dup, XM_011514135.1:c.2433dup, XM_011514137.4:c.2418dup, XM_011514137.3:c.2418dup, XM_011514137.2:c.2418dup, XM_011514137.1:c.2418dup, XM_011514138.4:c.2433dup, XM_011514138.3:c.2433dup, XM_011514138.2:c.2433dup, XM_011514138.1:c.2433dup, XM_011514139.4:c.2433dup, XM_011514139.3:c.2433dup, XM_011514139.2:c.2433dup, XM_011514139.1:c.2433dup, XM_011514136.4:c.2433dup, XM_011514136.3:c.2433dup, XM_011514136.2:c.2433dup, XM_011514136.1:c.2433dup, NM_024867.4:c.2433dup, NM_024867.3:c.2433dup, XR_925655.3:n.2568dup, XR_925655.2:n.2536dup, XR_925655.1:n.2649dup, XM_011514140.3:c.2262dup, XM_011514140.2:c.2262dup, XM_011514140.1:c.2262dup, XM_017009880.3:c.2247dup, XM_017009880.2:c.2247dup, XM_017009880.1:c.2247dup, XM_017009882.3:c.2433dup, XM_017009882.2:c.2433dup, XM_017009882.1:c.2433dup, XM_024446219.2:c.2262dup, XM_024446219.1:c.2262dup, XM_047417766.1:c.2007dup, XM_047417765.1:c.2007dup, XM_047417767.1:c.2433dup, XM_047417768.1:c.2433dup, XM_047417769.1:c.2433dup, XM_047417770.1:c.2418dup, XP_005248433.1:p.Ile812fs, XP_005248434.1:p.Ile807fs, XP_005248435.1:p.Ile812fs, XP_011512437.1:p.Ile812fs, XP_011512439.1:p.Ile807fs, XP_011512440.1:p.Ile812fs, XP_011512441.1:p.Ile812fs, XP_011512438.1:p.Ile812fs, NP_079143.3:p.Ile812fs, XP_011512442.1:p.Ile755fs, XP_016865369.1:p.Ile750fs, XP_016865371.1:p.Ile812fs, XP_024301987.1:p.Ile755fs, XP_047273722.1:p.Ile670fs, XP_047273721.1:p.Ile670fs, XP_047273723.1:p.Ile812fs, XP_047273724.1:p.Ile812fs, XP_047273725.1:p.Ile812fs, XP_047273726.1:p.Ile807fs
20.
rs1491291688 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 5:35833979
(GRCh38)
5:35834081
(GRCh37)
- Canonical SPDI:
- NC_000005.10:35833978:CA:
- Validated:
- by frequency,by cluster
- MAF:
-=0.024/89
(TWINSUK)
-=0.0265/102
(ALSPAC)
- HGVS: