Linked Data
gnomAD v4:
3-49123142-ATGTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49123147_49123150del , CM000665.2:g.49123147_49123150del | GRCh38 |
| NC_000003.11:g.49160580_49160583del , CM000665.1:g.49160580_49160583del | GRCh37 |
| NC_000003.10:g.49135584_49135587del | NCBI36 |
| NG_008094.1:g.15021_15024del | |
| NG_054716.1:g.2793_2796del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.4210_4213del MANE Select | ENSP00000307156.4:p.Asp1404Ter | |
| ENST00000305544.8:c.4210_4213del | ENSP00000307156.4:p.Asp1404Ter | |
| ENST00000418109.5:c.4210_4213del | ENSP00000388325.1:p.Asp1404Ter | |
| ENST00000469665.1:n.440_443del | ||
| NM_002292.3:c.4210_4213del | NP_002283.3:p.Asp1404Ter | |
| XM_005265127.3:c.4210_4213del | XP_005265184.1:p.Asp1404Ter | |
| XM_005265127.4:c.4210_4213del | XP_005265184.1:p.Asp1404Ter | |
| NM_002292.4:c.4210_4213del MANE Select | NP_002283.3:p.Asp1404Ter |