Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410904_48410906del , CM000677.2:g.48410904_48410906del | GRCh38 |
| NC_000015.9:g.48703101_48703103del , CM000677.1:g.48703101_48703103del | GRCh37 |
| NC_000015.8:g.46490393_46490395del | NCBI36 |
| NG_008805.2:g.239885_239887del , LRG_778:g.239885_239887del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1510_*1512del | ENSP00000453958.2:n.*1510_*1512del | |
| ENST00000682158.1:n.2083_2085del | ||
| ENST00000682170.1:n.2883_2885del | ||
| ENST00000682767.1:n.1999_2001del | ||
| ENST00000316623.10:c.*86_*88del MANE Select | ENSP00000325527.5:n.*86_*88del | |
| ENST00000316623.9:c.*86_*88del | ENSP00000325527.5:n.*86_*88del | |
| ENST00000559133.5:c.4071_4073del | ||
| NM_000138.4:c.*86_*88del , LRG_778t1:c.*86_*88del | NP_000129.3:n.*86_*88del | |
| NM_000138.5:c.*86_*88del MANE Select | NP_000129.3:n.*86_*88del |