Linked Data
dbSNP Id:
rs1482248873
gnomAD v2:
7-17332981-TAA-T
gnomAD v3:
7-17293357-TAA-T
gnomAD v4:
7-17293357-TAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17293359_17293360del , CM000669.2:g.17293359_17293360del | GRCh38 |
| NC_000007.13:g.17332983_17332984del , CM000669.1:g.17332983_17332984del | GRCh37 |
| NC_000007.12:g.17299508_17299509del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642825.1:c.-202-2938_-202-2937del | ENSP00000495987.1:n.-202-2938_-202-2937de... | |
| XR_927069.1:n.293+1807_293+1808del | ||
| XR_927070.1:n.293+1807_293+1808del | ||
| XR_927071.1:n.293+1807_293+1808del | ||
| XR_927072.1:n.294+1807_294+1808del | ||
| XR_927073.1:n.295+1807_295+1808del | ||
| XR_927073.2:n.295+1807_295+1808del |