HGVS | Genome Assembly |
---|---|
NC_000001.11:g.58782518_58782550del , CM000663.2:g.58782518_58782550del | GRCh38 |
NC_000001.10:g.59248190_59248222del , CM000663.1:g.59248190_59248222del | GRCh37 |
NC_000001.9:g.59020778_59020810del | NCBI36 |
NG_047027.1:g.6566_6598del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000710273.1:c.589_621del | ENSP00000518166.1:p.Asn197_Gly207del | |
ENST00000371222.4:c.523_555del MANE Select | ENSP00000360266.2:p.Asn175_Gly185del | |
ENST00000678696.1:c.523_555del | ENSP00000503132.1:p.Asn175_Gly185del | |
ENST00000371222.3:c.523_555del | ENSP00000360266.2:p.Asn175_Gly185del | |
NM_002228.3:c.523_555del | NP_002219.1:p.Asn175_Gly185del | |
NM_002228.4:c.523_555del MANE Select | NP_002219.1:p.Asn175_Gly185del |