Linked Data
dbSNP Id:
rs1714903622
gnomAD v3:
3-165830155-TCTAAGACA-T
gnomAD v4:
3-165830155-TCTAAGACA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830158_165830165del , CM000665.2:g.165830158_165830165del | GRCh38 |
| NC_000003.11:g.165547946_165547953del , CM000665.1:g.165547946_165547953del | GRCh37 |
| NC_000003.10:g.167030640_167030647del | NCBI36 |
| NG_009031.1:g.12303_12310del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.871_878del MANE Select | ENSP00000264381.3:p.Cys291LysfsTer2 | |
| ENST00000264381.7:c.871_878del | ENSP00000264381.3:p.Cys291LysfsTer2 | |
| ENST00000479451.5:c.107+7151_107+7158del | ENSP00000418325.1:n.107+7151_107+7158del | |
| ENST00000482958.1:c.871_878del | ENSP00000419804.1:p.Cys291LysfsTer2 | |
| ENST00000488954.1:c.107+7151_107+7158del | ENSP00000418504.1:n.107+7151_107+7158del | |
| ENST00000497011.5:c.871_878del | ENSP00000419505.1:p.Cys291LysfsTer2 | |
| NM_000055.2:c.871_878del | NP_000046.1:p.Cys291LysfsTer2 | |
| XM_005247685.1:c.994_1001del | XP_005247742.1:p.Cys332LysfsTer2 | |
| NM_000055.3:c.871_878del | NP_000046.1:p.Cys291LysfsTer2 | |
| NR_137635.1:n.159+7151_159+7158del | ||
| NR_137636.1:n.1038_1045del | ||
| NM_000055.4:c.871_878del MANE Select | NP_000046.1:p.Cys291LysfsTer2 | |
| NR_137635.2:n.110+7151_110+7158del | ||
| NR_137636.2:n.989_996del |