Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7511204_7511207del , CM000679.2:g.7511204_7511207del | GRCh38 |
| NC_000017.10:g.7414523_7414526del , CM000679.1:g.7414523_7414526del | GRCh37 |
| NC_000017.9:g.7355247_7355250del | NCBI36 |
| NG_027747.1:g.31826_31829del | |
| NG_027747.2:g.31826_31829del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000937.5:c.3814-11_3814-8del MANE Select | NP_000928.1:n.3814-11_3814-8del |
| NM_000937.4:c.3814-11_3814-8del | NP_000928.1:n.3814-11_3814-8del |
| ENST00000617998.4:c.3814-11_3814-8del | ENSP00000480158.1:n.3814-11_3814-8del |
| ENST00000617998.6:n.4213-11_4213-8del | |
| ENST00000621442.4:c.3814-11_3814-8del | ENSP00000483957.1:n.3814-11_3814-8del |
| ENST00000674977.2:c.3814-11_3814-8del | ENSP00000502190.2:n.3814-11_3814-8del |