Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102958419_102958430dup , CM000674.2:g.102958419_102958430dup | GRCh38 |
| NC_000012.11:g.103352197_103352208dup , CM000674.1:g.103352197_103352208dup | GRCh37 |
| NC_000012.10:g.101876327_101876338dup | NCBI36 |
| NG_008950.1:g.5746_5757dup | |
| NG_008690.2:g.5006_5017dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004316.4:c.175_186dup (ASCL1) MANE Select | NP_004307.2:p.Gln62_Ala63insGlnGlnGlnGln |
| ENST00000266744.4:c.175_186dup (ASCL1) MANE Select | ENSP00000266744.3:p.Gln62_Ala63insGlnGlnGlnGln |
| NM_001354304.2:c.-306_-295dup (PAH) | NP_001341233.1:n.-306_-295dup |
| NM_004316.3:c.175_186dup (ASCL1) | NP_004307.2:p.Gln62_Ala63insGlnGlnGlnGln |
| ENST00000266744.3:c.175_186dup (ASCL1) | ENSP00000266744.3:p.Gln62_Ala63insGlnGlnGlnGln |