Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071017_29071019del , CM000664.2:g.29071017_29071019del | GRCh38 |
| NC_000002.11:g.29293883_29293885del , CM000664.1:g.29293883_29293885del | GRCh37 |
| NC_000002.10:g.29147387_29147389del | NCBI36 |
| NG_021427.1:g.8246_8248del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3246_3248del MANE Select | ENSP00000332809.4:p.Pro1083del | |
| ENST00000331664.5:c.3246_3248del | ENSP00000332809.4:p.Pro1083del | |
| NM_001029883.2:c.3246_3248del | NP_001025054.1:p.Pro1083del | |
| XM_011532826.1:c.3246_3248del | XP_011531128.1:p.Pro1083del | |
| XR_939901.1:n.185+1850_185+1852del | ||
| XR_939902.1:n.173+1862_173+1864del | ||
| NM_001029883.3:c.3246_3248del MANE Select | NP_001025054.1:p.Pro1083del |