Linked Data
ClinVar Variation Id:
43506
dbSNP Id:
rs111033407
ExAC:
7:107335062 G / GCAGT
gnomAD v2:
7-107335062-G-GCAGT
gnomAD v3:
7-107694617-G-GCAGT
gnomAD v4:
7-107694617-G-GCAGT
MyVariant Identifiers:
chr7:g.107335064_107335067dupAGTC (hg19)
chr7:g.107335062_107335063insCAGT (hg19)
chr7:g.107694619_107694622dupAGTC (hg38)
chr7:g.107694617_107694618insCAGT (hg38)
PubMed:
PMID:19204907
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107694619_107694622dup , CM000669.2:g.107694619_107694622dup | GRCh38 |
| NC_000007.13:g.107335064_107335067dup , CM000669.1:g.107335064_107335067dup | GRCh37 |
| NC_000007.12:g.107122300_107122303dup | NCBI36 |
| NG_008489.1:g.38985_38988dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.1342-2_1343dup | ||
| ENST00000644846.1:c.53-2_54dup | ||
| ENST00000265715.7:c.1342-2_1343dup | ||
| ENST00000460748.1:n.445-2_446dup | ||
| ENST00000477350.5:n.189-2_190dup | ||
| ENST00000480841.5:n.191-2_192dup | ||
| ENST00000497446.5:n.357-2_358dup | ||
| NM_000441.1:c.1342-2_1343dup | ||
| XM_005250425.1:c.1342-2_1343dup | ||
| XM_005250425.2:c.1342-2_1343dup | ||
| XM_017012318.1:c.1264-2_1265dup | ||
| NM_000441.2:c.1342-2_1343dup |