Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49122844_49122846del , CM000665.2:g.49122844_49122846del | GRCh38 |
| NC_000003.11:g.49160277_49160279del , CM000665.1:g.49160277_49160279del | GRCh37 |
| NC_000003.10:g.49135281_49135283del | NCBI36 |
| NG_008094.1:g.15321_15323del | |
| NG_054716.1:g.3093_3095del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.4431_4433del MANE Select | ENSP00000307156.4:p.Ala1478del | |
| ENST00000305544.8:c.4431_4433del | ENSP00000307156.4:p.Ala1478del | |
| ENST00000418109.5:c.4431_4433del | ENSP00000388325.1:p.Ala1478del | |
| ENST00000469665.1:n.740_742del | ||
| NM_002292.3:c.4431_4433del | NP_002283.3:p.Ala1478del | |
| XM_005265127.3:c.4431_4433del | XP_005265184.1:p.Ala1478del | |
| XM_005265127.4:c.4431_4433del | XP_005265184.1:p.Ala1478del | |
| NM_002292.4:c.4431_4433del MANE Select | NP_002283.3:p.Ala1478del |