Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112243399del , CM000674.2:g.112243399del | GRCh38 |
| NC_000012.11:g.112681203del , CM000674.1:g.112681203del | GRCh37 |
| NC_000012.10:g.111165586del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682272.1:c.4912del MANE Select | ENSP00000507687.1:p.Thr1638ArgfsTer7 | |
| ENST00000377560.9:c.4906del | ENSP00000366783.7:p.Thr1636ArgfsTer7 | |
| ENST00000550722.5:c.4510del | ENSP00000449784.2:p.Thr1504ArgfsTer7 | |
| NM_001109662.3:c.4510del | NP_001103132.3:p.Thr1504ArgfsTer7 | |
| NM_001109662.4:c.4942del | NP_001103132.4:p.Thr1648ArgfsTer7 | |
| NM_001388303.1:c.4912del MANE Select | NP_001375232.1:p.Thr1638ArgfsTer7 |