Linked Data
dbSNP Id:
rs200602772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120627010_120627014del , CM000685.2:g.120627010_120627014del | GRCh38 |
| NC_000023.10:g.119760865_119760869del , CM000685.1:g.119760865_119760869del | GRCh37 |
| NC_000023.9:g.119644893_119644897del | NCBI36 |
| NG_016219.1:g.8138_8142del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304661.6:c.154_158del MANE Select | ENSP00000304364.5:p.Ile52GlufsTer6 | |
| ENST00000304661.5:c.154_158del | ENSP00000304364.5:p.Ile52GlufsTer6 | |
| ENST00000371313.2:c.154_158del | ENSP00000360363.2:p.Ile52GlufsTer6 | |
| NM_001011551.2:c.154_158del | NP_001011551.1:p.Ile52GlufsTer6 | |
| NM_152692.4:c.154_158del | NP_689905.1:p.Ile52GlufsTer6 | |
| NM_001011551.3:c.154_158del MANE Select | NP_001011551.1:p.Ile52GlufsTer6 | |
| NM_152692.5:c.154_158del | NP_689905.1:p.Ile52GlufsTer6 |