dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38070850del , CM000664.2:g.38070850del | GRCh38 |
| NC_000002.11:g.38297993del , CM000664.1:g.38297993del | GRCh37 |
| NC_000002.10:g.38151497del | NCBI36 |
| NG_008386.2:g.10255del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.1507del | ENSP00000478839.2:p.Met503Ter | |
| ENST00000610745.5:c.1507del MANE Select | ENSP00000478561.1:p.Met503Ter | |
| ENST00000494864.1:c.394del | ENSP00000479876.1:p.Met132Ter | |
| ENST00000610745.4:c.1507del | ENSP00000478561.1:p.Met503Ter | |
| ENST00000614273.1:c.1507del | ENSP00000483678.1:p.Met503Ter | |
| NM_000104.3:c.1507del | NP_000095.2:p.Met503Ter | |
| NM_000104.4:c.1507del MANE Select | NP_000095.2:p.Met503Ter |