Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24800092_24800093del , CM000666.2:g.24800092_24800093del | GRCh38 |
| NC_000004.11:g.24801714_24801715del , CM000666.1:g.24801714_24801715del | GRCh37 |
| NC_000004.10:g.24410812_24410813del | NCBI36 |
| NG_012213.1:g.9630_9631del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.571_572del MANE Select | ENSP00000371554.3:p.Gly191GlnfsTer? | |
| ENST00000382120.3:c.571_572del | ENSP00000371554.3:p.Gly191GlnfsTer? | |
| NM_003102.2:c.571_572del | NP_003093.2:p.Gly191GlnfsTer? | |
| XR_427488.1:n.761_762del | ||
| NM_003102.3:c.571_572del | NP_003093.2:p.Gly191GlnfsTer? | |
| NM_003102.4:c.571_572del MANE Select | NP_003093.2:p.Gly191GlnfsTer? |