HGVS | Genome Assembly |
---|---|
NC_000008.11:g.38145590_38145594del , CM000670.2:g.38145590_38145594del | GRCh38 |
NC_000008.10:g.38003108_38003112del , CM000670.1:g.38003108_38003112del | GRCh37 |
NC_000008.9:g.38122265_38122269del | NCBI36 |
NG_011827.1:g.10489_10493del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000276449.9:c.651-279_651-275del MANE Select | ENSP00000276449.3:n.651-279_651-275del | |
ENST00000276449.8:c.651-279_651-275del | ENSP00000276449.3:n.651-279_651-275del | |
ENST00000520114.1:n.1506_1510del | ||
ENST00000522050.1:c.586+369_586+373del | ||
NM_000349.2:c.651-279_651-275del | NP_000340.2:n.651-279_651-275del | |
XM_006716392.1:c.650+369_650+373del | XP_006716455.1:n.650+369_650+373del | |
NM_000349.3:c.651-279_651-275del MANE Select | NP_000340.2:n.651-279_651-275del |