ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7938237del , CM000663.2:g.7938237del | GRCh38 |
| NC_000001.10:g.7998297del , CM000663.1:g.7998297del | GRCh37 |
| NC_000001.9:g.7920884del | NCBI36 |
| NG_052834.1:g.9929del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377507.8:c.302del MANE Select | ENSP00000366729.3:p.Met101SerfsTer12 | |
| ENST00000674210.1:c.302del | ENSP00000501326.1:p.Met101SerfsTer12 | |
| ENST00000377507.7:c.302del | ENSP00000366729.3:p.Met101SerfsTer12 | |
| ENST00000492571.1:c.68del | ENSP00000464978.1:p.Met23SerfsTer12 | |
| ENST00000615230.4:c.302del | ENSP00000478699.1:p.Met101SerfsTer12 | |
| NM_001561.5:c.302del | NP_001552.2:p.Met101SerfsTer12 | |
| XM_006710618.2:c.302del | XP_006710681.1:p.Met101SerfsTer12 | |
| XM_011541386.1:c.302del | XP_011539688.1:p.Met101SerfsTer12 | |
| XM_006710618.3:c.302del | XP_006710681.1:p.Met101SerfsTer12 | |
| XM_011541386.2:c.302del | XP_011539688.1:p.Met101SerfsTer12 | |
| NM_001561.6:c.302del MANE Select | NP_001552.2:p.Met101SerfsTer12 |