Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23420853_23420854del , CM000676.2:g.23420853_23420854del | GRCh38 |
| NC_000014.8:g.23890062_23890063del , CM000676.1:g.23890062_23890063del | GRCh37 |
| NC_000014.7:g.22959902_22959903del | NCBI36 |
| NG_007884.1:g.19809_19810del , LRG_384:g.19809_19810del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3336+105_3336+106del MANE Select | ENSP00000347507.3:n.3336+105_3336+106del | |
| ENST00000355349.3:c.3336+105_3336+106del | ENSP00000347507.3:n.3336+105_3336+106del | |
| NM_000257.3:c.3336+105_3336+106del | NP_000248.2:n.3336+105_3336+106del | |
| XR_245686.3:n.3444+105_3444+106del | ||
| XM_017021340.1:c.3336+105_3336+106del | XP_016876829.1:n.3336+105_3336+106del | |
| NM_000257.4:c.3336+105_3336+106del MANE Select | NP_000248.2:n.3336+105_3336+106del |