HGVS | Genome Assembly |
---|---|
NC_000012.12:g.71983557_71983559del , CM000674.2:g.71983557_71983559del | GRCh38 |
NC_000012.11:g.72377337_72377339del , CM000674.1:g.72377337_72377339del | GRCh37 |
NC_000012.10:g.70663604_70663606del | NCBI36 |
NG_008279.1:g.49712_49714del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000333850.4:c.941+4470_941+4472del MANE Select | ENSP00000329093.3:n.941+4470_941+4472del | |
ENST00000333850.3:c.941+4470_941+4472del | ENSP00000329093.3:n.941+4470_941+4472del | |
NM_173353.3:c.941+4470_941+4472del | NP_775489.2:n.941+4470_941+4472del | |
XM_011537899.1:c.347+4470_347+4472del | XP_011536201.1:n.347+4470_347+4472del | |
NM_173353.4:c.941+4470_941+4472del MANE Select | NP_775489.2:n.941+4470_941+4472del |