Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23431424_23431426delinsCTA , CM000676.2:g.23431424_23431426delinsCTA | GRCh38 |
| NC_000014.8:g.23900633_23900635delinsCTA , CM000676.1:g.23900633_23900635delinsCTA | GRCh37 |
| NC_000014.7:g.22970473_22970475delinsCTA | NCBI36 |
| NG_007884.1:g.9236_9238delinsTAG , LRG_384:g.9236_9238delinsTAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.788_790delinsTAG MANE Select | ENSP00000347507.3:p.Ile263= | |
| ENST00000355349.3:c.788_790delinsTAG | ENSP00000347507.3:p.Ile263= | |
| NM_000257.3:c.788_790delinsTAG | NP_000248.2:p.Ile263= | |
| XR_245686.3:n.894_896delinsTAG | ||
| XM_017021340.1:c.788_790delinsTAG | XP_016876829.1:p.Ile263= | |
| NM_000257.4:c.788_790delinsTAG MANE Select | NP_000248.2:p.Ile263= |