Linked Data
dbSNP Id:
rs1488125552
gnomAD v2:
16-3779895-AC-A
gnomAD v3:
16-3729894-AC-A
gnomAD v4:
16-3729894-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729895del , CM000678.2:g.3729895del | GRCh38 |
| NC_000016.9:g.3779896del , CM000678.1:g.3779896del | GRCh37 |
| NC_000016.8:g.3719897del | NCBI36 |
| NG_009873.1:g.155226del | |
| NG_009873.2:g.155819del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5173-21del MANE Select | ENSP00000262367.5:n.5173-21del | |
| ENST00000262367.9:c.5173-21del | ENSP00000262367.5:n.5173-21del | |
| ENST00000382070.7:c.5059-21del | ENSP00000371502.3:n.5059-21del | |
| NM_001079846.1:c.5059-21del | NP_001073315.1:n.5059-21del | |
| NM_004380.2:c.5173-21del | NP_004371.2:n.5173-21del | |
| XM_005255124.3:c.5128-21del | XP_005255181.1:n.5128-21del | |
| XM_005255125.3:c.4756-21del | XP_005255182.1:n.4756-21del | |
| XM_006720848.2:c.4912-21del | XP_006720911.1:n.4912-21del | |
| XM_011522380.1:c.5119-21del | XP_011520682.1:n.5119-21del | |
| XM_011522381.1:c.4420-21del | XP_011520683.1:n.4420-21del | |
| XM_005255124.4:c.5128-21del | XP_005255181.1:n.5128-21del | |
| XM_005255125.4:c.4756-21del | XP_005255182.1:n.4756-21del | |
| XM_006720848.3:c.4912-21del | XP_006720911.1:n.4912-21del | |
| XM_011522381.2:c.4420-21del | XP_011520683.1:n.4420-21del | |
| XM_017022944.1:c.5167-21del | XP_016878433.1:n.5167-21del | |
| NM_004380.3:c.5173-21del MANE Select | NP_004371.2:n.5173-21del |