Linked Data
dbSNP Id:
rs1441358326
gnomAD v2:
4-110658954-TC-T
gnomAD v3:
4-109737798-TC-T
gnomAD v4:
4-109737798-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109737799del , CM000666.2:g.109737799del | GRCh38 |
| NC_000004.11:g.110658955del , CM000666.1:g.110658955del | GRCh37 |
| NC_000004.10:g.110878404del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695844.1:n.1714-3003del | ||
| ENST00000695845.1:n.1712+4692del | ||
| ENST00000645635.1:c.1534+4692del | ENSP00000493607.1:n.1534+4692del | |
| XM_011531920.1:c.1558+4692del | XP_011530222.1:n.1558+4692del | |
| XM_011531920.2:c.1558+4692del | XP_011530222.1:n.1558+4692del | |
| XM_017008164.2:c.1534+4692del | XP_016863653.1:n.1534+4692del | |
| XM_017008165.2:c.1513+4692del | XP_016863654.1:n.1513+4692del | |
| XM_017008166.2:c.1535-2999del | XP_016863655.1:n.1535-2999del | |
| NM_001375278.1:c.1559-3003del | NP_001362207.1:n.1559-3003del | |
| NM_001375279.1:c.1535-3003del | NP_001362208.1:n.1535-3003del | |
| NM_001375280.1:c.1514-3003del | NP_001362209.1:n.1514-3003del | |
| NM_001375281.1:c.1534+4692del | NP_001362210.1:n.1534+4692del | |
| NM_001375282.1:c.1513+4692del | NP_001362211.1:n.1513+4692del |