Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160553631_160553632del , CM000668.2:g.160553631_160553632del | GRCh38 |
| NC_000006.11:g.160974663_160974664del , CM000668.1:g.160974663_160974664del | GRCh37 |
| NC_000006.10:g.160894653_160894654del | NCBI36 |
| NG_016147.1:g.117744_117745del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316300.10:c.4973+2393_4973+2394del MANE Select | ENSP00000321334.6:n.4973+2393_4973+2394del | |
| ENST00000316300.9:c.4973+2393_4973+2394del | ENSP00000321334.5:n.4973+2393_4973+2394del | |
| NM_005577.2:c.4973+2393_4973+2394del | NP_005568.2:n.4973+2393_4973+2394del | |
| NM_005577.3:c.4973+2393_4973+2394del | NP_005568.2:n.4973+2393_4973+2394del | |
| NM_005577.4:c.4973+2393_4973+2394del MANE Select | NP_005568.2:n.4973+2393_4973+2394del |