Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36663226_36663227dup , CM000676.2:g.36663226_36663227dup | GRCh38 |
| NC_000014.8:g.37132431_37132432dup , CM000676.1:g.37132431_37132432dup | GRCh37 |
| NC_000014.7:g.36202182_36202183dup | NCBI36 |
| NG_013357.1:g.10659_10660dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361487.7:c.334_335dup MANE Select | ENSP00000355245.6:p.Asp113AlafsTer9 | |
| ENST00000361487.6:c.334_335dup | ENSP00000355245.6:p.Asp113AlafsTer9 | |
| ENST00000402703.6:c.334_335dup | ENSP00000384817.2:p.Asp113AlafsTer9 | |
| ENST00000554201.1:c.-228_-227dup | ENSP00000450434.1:n.-228_-227dup | |
| NM_006194.3:c.334_335dup | NP_006185.1:p.Asp113AlafsTer9 | |
| NM_001372076.1:c.334_335dup MANE Select | NP_001359005.1:p.Asp113AlafsTer9 | |
| NM_006194.4:c.334_335dup | NP_006185.1:p.Asp113AlafsTer9 |