Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87743459_87743460del , CM000672.2:g.87743459_87743460del | GRCh38 |
| NC_000010.10:g.89503216_89503217del , CM000672.1:g.89503216_89503217del | GRCh37 |
| NC_000010.9:g.89493196_89493197del | NCBI36 |
| NG_012150.1:g.88741_88742del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.1309_1310del MANE Select | ENSP00000406157.1:p.Arg437GlyfsTer19 | |
| ENST00000361175.8:c.1294_1295del | ENSP00000354436.4:p.Arg432GlyfsTer19 | |
| ENST00000456849.1:c.1309_1310del | ENSP00000406157.1:p.Arg437GlyfsTer19 | |
| NM_001015880.1:c.1309_1310del | NP_001015880.1:p.Arg437GlyfsTer19 | |
| NM_004670.3:c.1294_1295del | NP_004661.2:p.Arg432GlyfsTer19 | |
| NM_001015880.2:c.1309_1310del MANE Select | NP_001015880.1:p.Arg437GlyfsTer19 | |
| NM_004670.4:c.1294_1295del | NP_004661.2:p.Arg432GlyfsTer19 |