Linked Data
dbSNP Id:
rs577485310
gnomAD v2:
7-147268210-CT-C
gnomAD v3:
7-147571118-CT-C
gnomAD v4:
7-147571118-CT-C
MyVariant Identifiers:
chr7:g.147268213del (hg19)
chr7:g.147268211del (hg19)
chr7:g.147571121del (hg38)
chr7:g.147571119del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147571126del , CM000669.2:g.147571126del | GRCh38 |
| NC_000007.13:g.147268218del , CM000669.1:g.147268218del | GRCh37 |
| NC_000007.12:g.146899151del | NCBI36 |
| NG_007092.2:g.1459766del | |
| NG_007092.3:g.1460126del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1897+8869del MANE Select | ENSP00000354778.3:n.1897+8869del | |
| ENST00000636870.1:n.1759+8869del | ||
| ENST00000637825.1:n.1380+8869del | ||
| ENST00000638117.1:n.1800+8869del | ||
| ENST00000361727.7:c.1897+8869del | ENSP00000354778.3:n.1897+8869del | |
| NM_014141.5:c.1897+8869del | NP_054860.1:n.1897+8869del | |
| XM_006715919.1:c.385+8869del | XP_006715982.1:n.385+8869del | |
| XM_017011950.2:c.1897+8869del | XP_016867439.1:n.1897+8869del | |
| NM_014141.6:c.1897+8869del MANE Select | NP_054860.1:n.1897+8869del |