Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15180113del , CM000681.2:g.15180113del | GRCh38 |
| NC_000019.9:g.15290924del , CM000681.1:g.15290924del | GRCh37 |
| NC_000019.8:g.15151924del | NCBI36 |
| NG_009819.1:g.25874del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.3291del MANE Select | ENSP00000263388.1:p.Thr1098ProfsTer? | |
| ENST00000263388.6:c.3291del | ENSP00000263388.1:p.Thr1098ProfsTer? | |
| ENST00000601011.1:c.3132del | ENSP00000473138.1:p.Thr1045ProfsTer? | |
| NM_000435.2:c.3291del | NP_000426.2:p.Thr1098ProfsTer? | |
| XM_005259924.3:c.3135del | XP_005259981.1:p.Thr1046ProfsTer? | |
| XM_005259924.4:c.3135del | XP_005259981.1:p.Thr1046ProfsTer? | |
| NM_000435.3:c.3291del MANE Select | NP_000426.2:p.Thr1098ProfsTer? |