Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942188_94942191del , CM000672.2:g.94942188_94942191del | GRCh38 |
| NC_000010.10:g.96701945_96701948del , CM000672.1:g.96701945_96701948del | GRCh37 |
| NC_000010.9:g.96691935_96691938del | NCBI36 |
| NG_008385.1:g.8531_8534del | |
| NG_008385.2:g.9031_9034del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.332-4_332-1del MANE Select | ENSP00000260682.6:n.332-4_332-1del | |
| ENST00000643112.1:c.332-4_332-1del | ENSP00000496202.1:n.332-4_332-1del | |
| ENST00000645207.1:n.485-4_485-1del | ||
| ENST00000260682.6:c.332-4_332-1del | ENSP00000260682.6:n.332-4_332-1del | |
| ENST00000461906.1:n.357-4_357-1del | ||
| ENST00000473496.1:n.103-4_103-1del | ||
| NM_000771.3:c.332-4_332-1del | NP_000762.2:n.332-4_332-1del | |
| NM_000771.4:c.332-4_332-1del MANE Select | NP_000762.2:n.332-4_332-1del |