Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154928576_154928579del , CM000685.2:g.154928576_154928579del | GRCh38 |
| NC_000023.10:g.154156851_154156854del , CM000685.1:g.154156851_154156854del | GRCh37 |
| NC_000023.9:g.153810045_153810048del | NCBI36 |
| NG_011403.1:g.99147_99150del | |
| NG_011403.2:g.99147_99150del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5213_5216del MANE Select | ENSP00000353393.4:p.Arg1738ThrfsTer? | |
| ENST00000360256.8:c.5213_5216del | ENSP00000353393.4:p.Arg1738ThrfsTer? | |
| NM_000132.3:c.5213_5216del | NP_000123.1:p.Arg1738ThrfsTer? | |
| XM_011531126.1:c.5108_5111del | XP_011529428.1:p.Arg1703ThrfsTer? | |
| NM_000132.4:c.5213_5216del MANE Select | NP_000123.1:p.Arg1738ThrfsTer? |