Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159323272_159323274del , CM000667.2:g.159323272_159323274del | GRCh38 |
| NC_000005.9:g.158750280_158750282del , CM000667.1:g.158750280_158750282del | GRCh37 |
| NC_000005.8:g.158682858_158682860del | NCBI36 |
| NG_009618.1:g.12201_12203del , LRG_71:g.12201_12203del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-148-2753_-148-2751del | ENSP00000512849.1:n.-148-2753_-148-2751del | |
| ENST00000696751.1:c.145_147del | ENSP00000512850.1:p.Thr49del | |
| ENST00000231228.3:c.145_147del MANE Select | ENSP00000231228.2:p.Thr49del | |
| ENST00000231228.2:c.145_147del | ENSP00000231228.2:p.Thr49del | |
| NM_002187.2:c.145_147del , LRG_71t1:c.145_147del | NP_002178.2:p.Thr49del | |
| XR_001742945.1:n.148-2262_148-2260del | ||
| NM_002187.3:c.145_147del MANE Select | NP_002178.2:p.Thr49del |