Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52186443del , CM000668.2:g.52186443del | GRCh38 |
| NC_000006.11:g.52051241del , CM000668.1:g.52051241del | GRCh37 |
| NC_000006.10:g.52159200del | NCBI36 |
| NG_033021.1:g.5057del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648244.1:c.12del MANE Select | ENSP00000497968.1:p.Lys5ArgfsTer11 | |
| ENST00000340057.1:c.12del | ENSP00000344192.1:p.Lys5ArgfsTer11 | |
| NM_002190.2:c.12del | NP_002181.1:p.Lys5ArgfsTer11 | |
| NM_002190.3:c.12del MANE Select | NP_002181.1:p.Lys5ArgfsTer11 |