Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424089_23424091del , CM000676.2:g.23424089_23424091del | GRCh38 |
| NC_000014.8:g.23893298_23893300del , CM000676.1:g.23893298_23893300del | GRCh37 |
| NC_000014.7:g.22963138_22963140del | NCBI36 |
| NG_007884.1:g.16571_16573del , LRG_384:g.16571_16573del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2738_2740del MANE Select | ENSP00000347507.3:p.Ile913_Gln914delinsLys | |
| ENST00000355349.3:c.2738_2740del | ENSP00000347507.3:p.Ile913_Gln914delinsLys | |
| NM_000257.3:c.2738_2740del | NP_000248.2:p.Ile913_Gln914delinsLys | |
| XR_245686.3:n.2844_2846del | ||
| XM_017021340.1:c.2738_2740del | XP_016876829.1:p.Ile913_Gln914delinsLys | |
| NM_000257.4:c.2738_2740del MANE Select | NP_000248.2:p.Ile913_Gln914delinsLys |