Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002093_21002096del , CM000664.2:g.21002093_21002096del | GRCh38 |
| NC_000002.11:g.21224965_21224968del , CM000664.1:g.21224965_21224968del | GRCh37 |
| NC_000002.10:g.21078470_21078473del | NCBI36 |
| NG_011793.1:g.46978_46981del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.13326_13329del MANE Select | ENSP00000233242.1:p.Gln4442HisfsTer? | |
| ENST00000616098.4:c.13324_13327del | ENSP00000477990.1:n.13324_13327del | |
| NM_000384.2:c.13326_13329del | NP_000375.2:p.Gln4442HisfsTer? | |
| XM_011532809.1:c.5870-2823_5870-2820del | XP_011531111.1:n.5870-2823_5870-2820del | |
| NM_000384.3:c.13326_13329del MANE Select | NP_000375.3:p.Gln4442HisfsTer? |