Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118932762del , CM000670.2:g.118932762del | GRCh38 |
| NC_000008.10:g.119945001del , CM000670.1:g.119945001del | GRCh37 |
| NC_000008.9:g.120014182del | NCBI36 |
| NG_012202.1:g.24383del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297350.9:c.400+169del MANE Select | ENSP00000297350.4:n.400+169del | |
| ENST00000297350.8:c.400+169del | ENSP00000297350.4:n.400+169del | |
| ENST00000517352.1:c.400+169del | ENSP00000427924.1:n.400+169del | |
| NM_002546.3:c.400+169del | NP_002537.3:n.400+169del | |
| NM_002546.4:c.400+169del MANE Select | NP_002537.3:n.400+169del |