Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21294763_21294764del , CM000676.2:g.21294763_21294764del | GRCh38 |
| NC_000014.8:g.21762922_21762923del , CM000676.1:g.21762922_21762923del | GRCh37 |
| NC_000014.7:g.20832762_20832763del | NCBI36 |
| NG_008933.1:g.11787_11788del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.172_173del MANE Select | ENSP00000382895.2:p.Met58ValfsTer12 | |
| ENST00000400017.6:c.172_173del | ENSP00000382895.2:p.Met58ValfsTer12 | |
| ENST00000556336.5:c.172_173del | ENSP00000450445.1:p.Met58ValfsTer12 | |
| ENST00000557771.5:c.172_173del | ENSP00000451219.1:p.Met58ValfsTer12 | |
| NM_020366.3:c.172_173del | NP_065099.3:p.Met58ValfsTer12 | |
| XM_011536983.1:c.172_173del | XP_011535285.1:p.Met58ValfsTer12 | |
| NM_020366.4:c.172_173del MANE Select | NP_065099.3:p.Met58ValfsTer12 |