Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42065326_42065328del , CM000666.2:g.42065326_42065328del | GRCh38 |
| NC_000004.11:g.42067343_42067345del , CM000666.1:g.42067343_42067345del | GRCh37 |
| NC_000004.10:g.41762100_41762102del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264451.12:c.1049_1051del MANE Select | ENSP00000264451.6:p.Ala350del | |
| ENST00000264451.11:c.1049_1051del | ENSP00000264451.6:p.Ala350del | |
| ENST00000509683.5:n.105_107del | ||
| ENST00000513699.5:c.*806_*808del | ENSP00000423529.1:n.*806_*808del | |
| NM_006345.3:c.1049_1051del | NP_006336.3:p.Ala350del | |
| XM_011513620.1:c.1049_1051del | XP_011511922.1:p.Ala350del | |
| XM_017007654.2:c.1049_1051del | XP_016863143.1:p.Ala350del | |
| XR_001741095.2:n.1199_1201del | ||
| NM_006345.4:c.1049_1051del MANE Select | NP_006336.3:p.Ala350del |