Linked Data
dbSNP Id:
rs1801719146
gnomAD v3:
7-148807282-T-TACAAAG
gnomAD v4:
7-148807282-T-TACAAAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807287_148807292dup , CM000669.2:g.148807287_148807292dup | GRCh38 |
| NC_000007.13:g.148504379_148504384dup , CM000669.1:g.148504379_148504384dup | GRCh37 |
| NC_000007.12:g.148135312_148135317dup | NCBI36 |
| NG_032043.1:g.82062_82067dup , LRG_531:g.82062_82067dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683292.1:c.*1510_*1515dup | ENSP00000507503.1:n.*1510_*1515dup | |
| XR_928101.1:n.515+2202_515+2207dup | ||
| XR_928102.1:n.722+2202_722+2207dup |