HGVS | Genome Assembly |
---|---|
NC_000004.12:g.40354296_40354297insCAC , CM000666.2:g.40354296_40354297insCAC | GRCh38 |
NC_000004.11:g.40356313_40356314insCAC , CM000666.1:g.40356313_40356314insCAC | GRCh37 |
NC_000004.10:g.40051070_40051071insCAC | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000310169.3:c.1216_1217insCAC MANE Select | ENSP00000312663.2:p.Cys406delinsSerArg | |
ENST00000310169.2:c.1216_1217insCAC | ENSP00000312663.2:p.Cys406delinsSerArg | |
NM_017581.3:c.1216_1217insCAC | NP_060051.2:p.Cys406delinsSerArg | |
NM_017581.4:c.1216_1217insCAC MANE Select | NP_060051.2:p.Cys406delinsSerArg |