Linked Data
dbSNP Id:
rs1558114314
gnomAD v2:
1-221051732-ACC-A
gnomAD v3:
1-220878390-ACC-A
gnomAD v4:
1-220878390-ACC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220878392_220878393del , CM000663.2:g.220878392_220878393del | GRCh38 |
| NC_000001.10:g.221051734_221051735del , CM000663.1:g.221051734_221051735del | GRCh37 |
| NC_000001.9:g.219118357_219118358del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651706.1:c.843-2802_843-2801del | ENSP00000499157.1:n.843-2802_843-2801del | |
| NR_046901.1:n.292+1457_292+1458del | ||
| XM_011510307.1:c.667_668del | XP_011508609.1:p.Gly223Ter |