Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141955086_141955087del , CM000667.2:g.141955086_141955087del | GRCh38 |
| NC_000005.9:g.141334651_141334652del , CM000667.1:g.141334651_141334652del | GRCh37 |
| NC_000005.8:g.141314835_141314836del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016580.4:c.2765_2766del MANE Select | NP_057664.1:p.Pro922ArgfsTer? |
| ENST00000231484.4:c.2765_2766del MANE Select | ENSP00000231484.3:p.Pro922ArgfsTer? |
| NM_016580.3:c.2765_2766del | NP_057664.1:p.Pro922ArgfsTer? |
| ENST00000231484.3:c.2765_2766del | ENSP00000231484.3:p.Pro922ArgfsTer? |
| XM_024446106.1:c.2765_2766del | XP_024301874.1:p.Pro922ArgfsTer? |
| XR_944366.1:n.3117+223_3117+224del |