Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172664251del , CM000663.2:g.172664251del | GRCh38 |
| NC_000001.10:g.172633391del , CM000663.1:g.172633391del | GRCh37 |
| NC_000001.9:g.170900014del | NCBI36 |
| NG_007269.1:g.10207del , LRG_58:g.10207del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367721.3:c.395-83del MANE Select | ENSP00000356694.2:n.395-83del | |
| ENST00000340030.4:c.349-83del | ENSP00000344739.3:n.349-83del | |
| ENST00000367721.2:c.395-83del | ENSP00000356694.2:n.395-83del | |
| NM_000639.2:c.395-83del | NP_000630.1:n.395-83del | |
| NM_001302746.1:c.349-83del | NP_001289675.1:n.349-83del | |
| NM_000639.3:c.395-83del MANE Select | NP_000630.1:n.395-83del | |
| NM_001302746.2:c.349-83del | NP_001289675.1:n.349-83del |