Linked Data
gnomAD v4:
12-65239959-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65239960del , CM000674.2:g.65239960del | GRCh38 |
| NC_000012.11:g.65633740del , CM000674.1:g.65633740del | GRCh37 |
| NC_000012.10:g.63920007del | NCBI36 |
| NG_016210.1:g.75390del | |
| NG_016210.2:g.75390del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.1953del MANE Select | ENSP00000308369.2:p.Tyr651Ter | |
| ENST00000308330.2:c.1953del | ENSP00000308369.2:p.Tyr651Ter | |
| NM_001167614.1:c.1950del | NP_001161086.1:p.Tyr650Ter | |
| NM_014319.4:c.1953del | NP_055134.2:p.Tyr651Ter | |
| NM_014319.5:c.1953del MANE Select | NP_055134.2:p.Tyr651Ter | |
| NM_001167614.2:c.1950del | NP_001161086.1:p.Tyr650Ter |