Links from Gene
Items: 1 to 20 of 1000
1.
rs1491578402 has merged into rs764051983 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:60232487
(GRCh38)
17:58309848
(GRCh37)
- Canonical SPDI:
- NC_000017.11:60232476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:60232476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:60232476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:60232476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:60232476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:60232476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:60232476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:60232476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232476:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- USP32 (Varview), SCARNA20 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
T=0.25/2
(KOREAN)
-=0.375/15
(GENOME_DK)
- HGVS:
NC_000017.11:g.60232487_60232496del, NC_000017.11:g.60232490_60232496del, NC_000017.11:g.60232491_60232496del, NC_000017.11:g.60232492_60232496del, NC_000017.11:g.60232493_60232496del, NC_000017.11:g.60232495_60232496del, NC_000017.11:g.60232496del, NC_000017.11:g.60232496dup, NC_000017.11:g.60232495_60232496dup, NC_000017.11:g.60232494_60232496dup, NC_000017.11:g.60232493_60232496dup, NC_000017.11:g.60232492_60232496dup, NC_000017.11:g.60232491_60232496dup, NC_000017.11:g.60232490_60232496dup, NC_000017.11:g.60232496_60232497insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.60232496_60232497insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.58309848_58309857del, NC_000017.10:g.58309851_58309857del, NC_000017.10:g.58309852_58309857del, NC_000017.10:g.58309853_58309857del, NC_000017.10:g.58309854_58309857del, NC_000017.10:g.58309856_58309857del, NC_000017.10:g.58309857del, NC_000017.10:g.58309857dup, NC_000017.10:g.58309856_58309857dup, NC_000017.10:g.58309855_58309857dup, NC_000017.10:g.58309854_58309857dup, NC_000017.10:g.58309853_58309857dup, NC_000017.10:g.58309852_58309857dup, NC_000017.10:g.58309851_58309857dup, NC_000017.10:g.58309857_58309858insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.58309857_58309858insTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491565591 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,AA,ACACA,ACACATA,ATTA
[Show Flanks]
- Chromosome:
- 17:60349643
(GRCh38)
17:58427005
(GRCh37)
- Canonical SPDI:
- NC_000017.11:60349643::A,NC_000017.11:60349643::AA,NC_000017.11:60349643::ACACA,NC_000017.11:60349643::ACACATA,NC_000017.11:60349643::ATTA
- Gene:
- USP32 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
ATTA=0.000004/1
(TOPMED)
A=0.000391/7
(TOMMO)
- HGVS:
4.
rs1491561135 has merged into rs58707657 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:60232176
(GRCh38)
17:58309537
(GRCh37)
- Canonical SPDI:
- NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60232168:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- USP32 (Varview), SCARNA20 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.60232176_60232190del, NC_000017.11:g.60232178_60232190del, NC_000017.11:g.60232179_60232190del, NC_000017.11:g.60232180_60232190del, NC_000017.11:g.60232181_60232190del, NC_000017.11:g.60232183_60232190del, NC_000017.11:g.60232184_60232190del, NC_000017.11:g.60232185_60232190del, NC_000017.11:g.60232186_60232190del, NC_000017.11:g.60232187_60232190del, NC_000017.11:g.60232188_60232190del, NC_000017.11:g.60232189_60232190del, NC_000017.11:g.60232190del, NC_000017.11:g.60232190dup, NC_000017.11:g.60232189_60232190dup, NC_000017.11:g.60232188_60232190dup, NC_000017.11:g.60232187_60232190dup, NC_000017.11:g.60232186_60232190dup, NC_000017.11:g.60232185_60232190dup, NC_000017.11:g.60232184_60232190dup, NC_000017.11:g.60232183_60232190dup, NC_000017.11:g.60232182_60232190dup, NC_000017.11:g.60232181_60232190dup, NC_000017.11:g.60232180_60232190dup, NC_000017.11:g.60232179_60232190dup, NC_000017.11:g.60232177_60232190dup, NC_000017.11:g.60232176_60232190dup, NC_000017.11:g.60232174_60232190dup, NC_000017.10:g.58309537_58309551del, NC_000017.10:g.58309539_58309551del, NC_000017.10:g.58309540_58309551del, NC_000017.10:g.58309541_58309551del, NC_000017.10:g.58309542_58309551del, NC_000017.10:g.58309544_58309551del, NC_000017.10:g.58309545_58309551del, NC_000017.10:g.58309546_58309551del, NC_000017.10:g.58309547_58309551del, NC_000017.10:g.58309548_58309551del, NC_000017.10:g.58309549_58309551del, NC_000017.10:g.58309550_58309551del, NC_000017.10:g.58309551del, NC_000017.10:g.58309551dup, NC_000017.10:g.58309550_58309551dup, NC_000017.10:g.58309549_58309551dup, NC_000017.10:g.58309548_58309551dup, NC_000017.10:g.58309547_58309551dup, NC_000017.10:g.58309546_58309551dup, NC_000017.10:g.58309545_58309551dup, NC_000017.10:g.58309544_58309551dup, NC_000017.10:g.58309543_58309551dup, NC_000017.10:g.58309542_58309551dup, NC_000017.10:g.58309541_58309551dup, NC_000017.10:g.58309540_58309551dup, NC_000017.10:g.58309538_58309551dup, NC_000017.10:g.58309537_58309551dup, NC_000017.10:g.58309535_58309551dup
6.
rs1491544541 has merged into rs751193414 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:60219574
(GRCh38)
17:58296935
(GRCh37)
- Canonical SPDI:
- NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60219561:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- USP32 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000017.11:g.60219574_60219588del, NC_000017.11:g.60219575_60219588del, NC_000017.11:g.60219576_60219588del, NC_000017.11:g.60219577_60219588del, NC_000017.11:g.60219578_60219588del, NC_000017.11:g.60219579_60219588del, NC_000017.11:g.60219580_60219588del, NC_000017.11:g.60219581_60219588del, NC_000017.11:g.60219582_60219588del, NC_000017.11:g.60219583_60219588del, NC_000017.11:g.60219584_60219588del, NC_000017.11:g.60219585_60219588del, NC_000017.11:g.60219586_60219588del, NC_000017.11:g.60219587_60219588del, NC_000017.11:g.60219588del, NC_000017.11:g.60219588dup, NC_000017.11:g.60219587_60219588dup, NC_000017.11:g.60219586_60219588dup, NC_000017.11:g.60219585_60219588dup, NC_000017.11:g.60219584_60219588dup, NC_000017.11:g.60219562_60219588T[32]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.11:g.60219583_60219588dup, NC_000017.11:g.60219582_60219588dup, NC_000017.11:g.60219581_60219588dup, NC_000017.11:g.60219580_60219588dup, NC_000017.11:g.60219579_60219588dup, NC_000017.11:g.60219578_60219588dup, NC_000017.11:g.60219577_60219588dup, NC_000017.11:g.60219576_60219588dup, NC_000017.11:g.60219575_60219588dup, NC_000017.11:g.60219574_60219588dup, NC_000017.11:g.60219573_60219588dup, NC_000017.11:g.60219572_60219588dup, NC_000017.11:g.60219571_60219588dup, NC_000017.11:g.60219570_60219588dup, NC_000017.11:g.60219569_60219588dup, NC_000017.11:g.60219568_60219588dup, NC_000017.11:g.60219564_60219588dup, NC_000017.11:g.60219588_60219589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.60219588_60219589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.60219588_60219589insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.58296935_58296949del, NC_000017.10:g.58296936_58296949del, NC_000017.10:g.58296937_58296949del, NC_000017.10:g.58296938_58296949del, NC_000017.10:g.58296939_58296949del, NC_000017.10:g.58296940_58296949del, NC_000017.10:g.58296941_58296949del, NC_000017.10:g.58296942_58296949del, NC_000017.10:g.58296943_58296949del, NC_000017.10:g.58296944_58296949del, NC_000017.10:g.58296945_58296949del, NC_000017.10:g.58296946_58296949del, NC_000017.10:g.58296947_58296949del, NC_000017.10:g.58296948_58296949del, NC_000017.10:g.58296949del, NC_000017.10:g.58296949dup, NC_000017.10:g.58296948_58296949dup, NC_000017.10:g.58296947_58296949dup, NC_000017.10:g.58296946_58296949dup, NC_000017.10:g.58296945_58296949dup, NC_000017.10:g.58296923_58296949T[32]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000017.10:g.58296944_58296949dup, NC_000017.10:g.58296943_58296949dup, NC_000017.10:g.58296942_58296949dup, NC_000017.10:g.58296941_58296949dup, NC_000017.10:g.58296940_58296949dup, NC_000017.10:g.58296939_58296949dup, NC_000017.10:g.58296938_58296949dup, NC_000017.10:g.58296937_58296949dup, NC_000017.10:g.58296936_58296949dup, NC_000017.10:g.58296935_58296949dup, NC_000017.10:g.58296934_58296949dup, NC_000017.10:g.58296933_58296949dup, NC_000017.10:g.58296932_58296949dup, NC_000017.10:g.58296931_58296949dup, NC_000017.10:g.58296930_58296949dup, NC_000017.10:g.58296929_58296949dup, NC_000017.10:g.58296925_58296949dup, NC_000017.10:g.58296949_58296950insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.58296949_58296950insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.58296949_58296950insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
7.
rs1491538805 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 17:60358145
(GRCh38)
17:58435507
(GRCh37)
- Canonical SPDI:
- NC_000017.11:60358145:TTTTTT:TTTTTTT
- Gene:
- USP32 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1491483283 has merged into rs569143215 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:60418410
(GRCh38)
17:58495771
(GRCh37)
- Canonical SPDI:
- NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:60418396:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- USP32 (Varview), LOC105371850 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.154553/774
(1000Genomes)
T=0.4/16
(GENOME_DK)
- HGVS:
NC_000017.11:g.60418410_60418416del, NC_000017.11:g.60418413_60418416del, NC_000017.11:g.60418415_60418416del, NC_000017.11:g.60418416del, NC_000017.11:g.60418416dup, NC_000017.11:g.60418415_60418416dup, NC_000017.11:g.60418414_60418416dup, NC_000017.11:g.60418413_60418416dup, NC_000017.11:g.60418412_60418416dup, NC_000017.11:g.60418411_60418416dup, NC_000017.11:g.60418410_60418416dup, NC_000017.11:g.60418409_60418416dup, NC_000017.11:g.60418408_60418416dup, NC_000017.10:g.58495771_58495777del, NC_000017.10:g.58495774_58495777del, NC_000017.10:g.58495776_58495777del, NC_000017.10:g.58495777del, NC_000017.10:g.58495777dup, NC_000017.10:g.58495776_58495777dup, NC_000017.10:g.58495775_58495777dup, NC_000017.10:g.58495774_58495777dup, NC_000017.10:g.58495773_58495777dup, NC_000017.10:g.58495772_58495777dup, NC_000017.10:g.58495771_58495777dup, NC_000017.10:g.58495770_58495777dup, NC_000017.10:g.58495769_58495777dup
10.
rs1491480556 has merged into rs373810890 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:60246422
(GRCh38)
17:58323783
(GRCh37)
- Canonical SPDI:
- NC_000017.11:60246413:TTTTTTTTTTTT:TTTTTTTT,NC_000017.11:60246413:TTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:60246413:TTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:60246413:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:60246413:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:60246413:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:60246413:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:60246413:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:60246413:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:60246413:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
- Gene:
- USP32 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.60246422_60246425del, NC_000017.11:g.60246423_60246425del, NC_000017.11:g.60246424_60246425del, NC_000017.11:g.60246425del, NC_000017.11:g.60246425dup, NC_000017.11:g.60246424_60246425dup, NC_000017.11:g.60246423_60246425dup, NC_000017.11:g.60246422_60246425dup, NC_000017.11:g.60246421_60246425dup, NC_000017.11:g.60246418_60246425dup, NC_000017.10:g.58323783_58323786del, NC_000017.10:g.58323784_58323786del, NC_000017.10:g.58323785_58323786del, NC_000017.10:g.58323786del, NC_000017.10:g.58323786dup, NC_000017.10:g.58323785_58323786dup, NC_000017.10:g.58323784_58323786dup, NC_000017.10:g.58323783_58323786dup, NC_000017.10:g.58323782_58323786dup, NC_000017.10:g.58323779_58323786dup
11.
rs1491473782 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 17:60373444
(GRCh38)
17:58450806
(GRCh37)
- Canonical SPDI:
- NC_000017.11:60373444:T:TAT
- Gene:
- USP32 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TAT=0./0
(
ALFA)
TA=0.000004/1
(TOPMED)
- HGVS:
12.
rs1491465504 has merged into rs11309727 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:60225962
(GRCh38)
17:58303323
(GRCh37)
- Canonical SPDI:
- NC_000017.11:60225952:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:60225952:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:60225952:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:60225952:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:60225952:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:60225952:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:60225952:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:60225952:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:60225952:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:60225952:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:60225952:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:60225952:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:60225952:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:60225952:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- USP32 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
A=0.0003/1
(TWINSUK)
A=0.001/4
(ALSPAC)
A=0.2329/116
(NorthernSweden)
- HGVS:
NC_000017.11:g.60225962_60225970del, NC_000017.11:g.60225964_60225970del, NC_000017.11:g.60225965_60225970del, NC_000017.11:g.60225967_60225970del, NC_000017.11:g.60225968_60225970del, NC_000017.11:g.60225969_60225970del, NC_000017.11:g.60225970del, NC_000017.11:g.60225970dup, NC_000017.11:g.60225969_60225970dup, NC_000017.11:g.60225968_60225970dup, NC_000017.11:g.60225967_60225970dup, NC_000017.11:g.60225965_60225970dup, NC_000017.11:g.60225964_60225970dup, NC_000017.11:g.60225963_60225970dup, NC_000017.10:g.58303323_58303331del, NC_000017.10:g.58303325_58303331del, NC_000017.10:g.58303326_58303331del, NC_000017.10:g.58303328_58303331del, NC_000017.10:g.58303329_58303331del, NC_000017.10:g.58303330_58303331del, NC_000017.10:g.58303331del, NC_000017.10:g.58303331dup, NC_000017.10:g.58303330_58303331dup, NC_000017.10:g.58303329_58303331dup, NC_000017.10:g.58303328_58303331dup, NC_000017.10:g.58303326_58303331dup, NC_000017.10:g.58303325_58303331dup, NC_000017.10:g.58303324_58303331dup
13.
rs1491455009 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 17:60288113
(GRCh38)
17:58365474
(GRCh37)
- Canonical SPDI:
- NC_000017.11:60288112:CA:
- Gene:
- USP32 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00003/1
(GnomAD)
- HGVS:
14.
rs1491437596 has merged into rs1491051711 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA
[Show Flanks]
- Chromosome:
- 17:60291574
(GRCh38)
17:58368935
(GRCh37)
- Canonical SPDI:
- NC_000017.11:60291571:TATA:TA,NC_000017.11:60291571:TATA:TATATA
- Gene:
- USP32 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATA=0.000337/4
(
ALFA)
-=0.000215/29
(GnomAD)
-=0.002595/10
(ALSPAC)
-=0.014293/53
(TWINSUK)
- HGVS:
16.
rs1491377024 has merged into rs34028475 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 17:60266671
(GRCh38)
17:58344032
(GRCh37)
- Canonical SPDI:
- NC_000017.11:60266655:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:60266655:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:60266655:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:60266655:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:60266655:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:60266655:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- USP32 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.04833/29
(NorthernSweden)
-=0.1883/943
(1000Genomes)
- HGVS:
NC_000017.11:g.60266671_60266673del, NC_000017.11:g.60266672_60266673del, NC_000017.11:g.60266673del, NC_000017.11:g.60266673dup, NC_000017.11:g.60266672_60266673dup, NC_000017.11:g.60266671_60266673dup, NC_000017.10:g.58344032_58344034del, NC_000017.10:g.58344033_58344034del, NC_000017.10:g.58344034del, NC_000017.10:g.58344034dup, NC_000017.10:g.58344033_58344034dup, NC_000017.10:g.58344032_58344034dup
17.
rs1491365378 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 17:60184829
(GRCh38)
17:58262191
(GRCh37)
- Canonical SPDI:
- NC_000017.11:60184829:C:CC
- Gene:
- USP32 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000065/9
(GnomAD)
- HGVS:
20.
rs1491312353 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATATTT,ATTT,ATTTTT,GT
[Show Flanks]
- Chromosome:
- 17:60324302
(GRCh38)
17:58401664
(GRCh37)
- Canonical SPDI:
- NC_000017.11:60324302:T:TATATTT,NC_000017.11:60324302:T:TATTT,NC_000017.11:60324302:T:TATTTTT,NC_000017.11:60324302:T:TGT
- Gene:
- USP32 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATTT=0./0
(
ALFA)
TATTTT=0.000008/2
(TOPMED)
- HGVS: