Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443636_32443637del , CM000668.2:g.32443636_32443637del | GRCh38 |
| NC_000006.11:g.32411413_32411414del , CM000668.1:g.32411413_32411414del | GRCh37 |
| NC_000006.10:g.32519391_32519392del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.611-120_611-119del MANE Select | ENSP00000378786.2:n.611-120_611-119del | |
| ENST00000374982.5:c.536-120_536-119del | ENSP00000364121.5:n.536-120_536-119del | |
| ENST00000395388.6:c.611-120_611-119del | ENSP00000378786.2:n.611-120_611-119del | |
| NM_019111.4:c.611-120_611-119del | NP_061984.2:n.611-120_611-119del | |
| NM_019111.5:c.611-120_611-119del MANE Select | NP_061984.2:n.611-120_611-119del |