Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102958425_102958430del , CM000674.2:g.102958425_102958430del | GRCh38 |
| NC_000012.11:g.103352203_103352208del , CM000674.1:g.103352203_103352208del | GRCh37 |
| NC_000012.10:g.101876333_101876338del | NCBI36 |
| NG_008950.1:g.5752_5757del | |
| NG_008690.2:g.5012_5017del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004316.4:c.181_186del (ASCL1) MANE Select | NP_004307.2:p.Gln61_Gln62del |
| ENST00000266744.4:c.181_186del (ASCL1) MANE Select | ENSP00000266744.3:p.Gln61_Gln62del |
| NM_001354304.2:c.-300_-295del (PAH) | NP_001341233.1:n.-300_-295del |
| NM_004316.3:c.181_186del (ASCL1) | NP_004307.2:p.Gln61_Gln62del |
| ENST00000266744.3:c.181_186del (ASCL1) | ENSP00000266744.3:p.Gln61_Gln62del |