HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40844989_40844990del , CM000681.2:g.40844989_40844990del | GRCh38 |
NC_000019.9:g.41350894_41350895del , CM000681.1:g.41350894_41350895del | GRCh37 |
NC_000019.8:g.46042734_46042735del | NCBI36 |
NG_008377.1:g.10459_10460del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301141.10:c.1162-217_1162-216del MANE Select | ENSP00000301141.4:n.1162-217_1162-216del | |
ENST00000301141.9:c.1162-217_1162-216del | ENSP00000301141.4:n.1162-217_1162-216del | |
ENST00000596719.5:n.1317_1318del | ||
ENST00000601627.1:c.119+43574_119+43575del | ||
ENST00000610301.1:c.1162-217_1162-216del | ENSP00000477899.1:n.1162-217_1162-216del | |
NM_000762.5:c.1162-217_1162-216del | NP_000753.3:n.1162-217_1162-216del | |
NM_000762.6:c.1162-217_1162-216del MANE Select | NP_000753.3:n.1162-217_1162-216del |