Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112831041_112831042del , CM000664.2:g.112831041_112831042del | GRCh38 |
| NC_000002.11:g.113588618_113588619del , CM000664.1:g.113588618_113588619del | GRCh37 |
| NC_000002.10:g.113305089_113305090del | NCBI36 |
| NG_008851.1:g.10738_10739del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263341.7:c.597+250_597+251del MANE Select | ENSP00000263341.2:n.597+250_597+251del | |
| ENST00000263341.6:c.597+250_597+251del | ENSP00000263341.2:n.597+250_597+251del | |
| ENST00000491056.5:n.1404+250_1404+251del | ||
| NM_000576.2:c.597+250_597+251del | NP_000567.1:n.597+250_597+251del | |
| XM_006712496.1:c.363+250_363+251del | XP_006712559.1:n.363+250_363+251del | |
| XM_017003988.2:c.504+250_504+251del | XP_016859477.1:n.504+250_504+251del | |
| NM_000576.3:c.597+250_597+251del MANE Select | NP_000567.1:n.597+250_597+251del |