Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716854_14716857del , CM000667.2:g.14716854_14716857del | GRCh38 |
| NC_000005.9:g.14716963_14716966del , CM000667.1:g.14716963_14716966del | GRCh37 |
| NC_000005.8:g.14769963_14769966del | NCBI36 |
| NG_008273.1:g.159924_159927del | |
| NG_008273.2:g.159931_159934del | |
| NG_051625.1:g.61061_61064del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1012-20_1012-17del MANE Select | ENSP00000284268.6:n.1012-20_1012-17del | |
| ENST00000284268.6:c.1012-20_1012-17del | ENSP00000284268.6:n.1012-20_1012-17del | |
| ENST00000502585.1:n.234_237del | ||
| NM_054027.4:c.1012-20_1012-17del | NP_473368.1:n.1012-20_1012-17del | |
| NM_054027.5:c.1012-20_1012-17del | NP_473368.1:n.1012-20_1012-17del | |
| XM_017009644.2:c.928-20_928-17del | XP_016865133.1:n.928-20_928-17del | |
| NM_054027.6:c.1012-20_1012-17del MANE Select | NP_473368.1:n.1012-20_1012-17del |