Linked Data
ClinVar Variation Id:
1425010
ClinVar RCV Id:
RCV001957312
dbSNP Id:
rs1383679424
gnomAD v2:
20-745934-C-CCGGA
gnomAD v4:
20-765290-C-CCGGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.765291_765294dup , CM000682.2:g.765291_765294dup | GRCh38 |
| NC_000020.10:g.745935_745938dup , CM000682.1:g.745935_745938dup | GRCh37 |
| NC_000020.9:g.693935_693938dup | NCBI36 |
| NG_027687.1:g.8291_8294dup | |
| NG_027687.2:g.15692_15695dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381944.5:c.481_484dup | ENSP00000371370.3:p.Gly162ValfsTer11 | |
| ENST00000473664.2:c.481_484dup | ENSP00000502741.1:p.Gly162ValfsTer11 | |
| ENST00000488495.3:c.481_484dup | ENSP00000494009.1:p.Gly162ValfsTer11 | |
| ENST00000645534.1:c.481_484dup MANE Select | ENSP00000494193.1:p.Gly162ValfsTer11 | |
| ENST00000675066.1:c.481_484dup | ENSP00000501902.1:p.Gly162ValfsTer11 | |
| ENST00000676154.1:c.481_484dup | ENSP00000501807.1:p.Gly162ValfsTer11 | |
| ENST00000217254.11:c.481_484dup | ENSP00000217254.7:p.Gly162ValfsTer11 | |
| ENST00000381944.4:c.481_484dup | ENSP00000371370.3:p.Gly162ValfsTer11 | |
| ENST00000473664.1:n.532_535dup | ||
| ENST00000632431.1:c.481_484dup | ENSP00000488723.1:p.Gly162ValfsTer11 | |
| NM_033409.3:c.481_484dup | NP_212134.3:p.Gly162ValfsTer11 | |
| XM_005260655.3:c.481_484dup | XP_005260712.1:p.Gly162ValfsTer11 | |
| XM_011529148.1:c.481_484dup | XP_011527450.1:p.Gly162ValfsTer11 | |
| XM_005260655.4:c.481_484dup | XP_005260712.1:p.Gly162ValfsTer11 | |
| XM_024451821.1:c.481_484dup | XP_024307589.1:p.Gly162ValfsTer11 | |
| NM_033409.4:c.481_484dup MANE Select | NP_212134.3:p.Gly162ValfsTer11 | |
| NM_001370085.1:c.481_484dup | NP_001357014.1:p.Gly162ValfsTer11 | |
| NM_001370086.1:c.481_484dup | NP_001357015.1:p.Gly162ValfsTer11 |