HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612328_41612329delinsTG , CM000679.2:g.41612328_41612329delinsTG | GRCh38 |
NC_000017.10:g.39768580_39768581delinsTG , CM000679.1:g.39768580_39768581delinsTG | GRCh37 |
NC_000017.9:g.37022106_37022107delinsTG | NCBI36 |
NG_008301.1:g.5499_5500delinsCA |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301653.9:c.360_361delinsCA MANE Select | ENSP00000301653.3:p.Thr120= | |
ENST00000301653.8:c.360_361delinsCA | ENSP00000301653.3:p.Thr120= | |
ENST00000588319.1:n.437_438delinsCA | ||
ENST00000593067.1:c.-312-43_-312-42delinsCA | ENSP00000467124.1:n.-312-43_-312-42delins... | |
NM_005557.3:c.360_361delinsCA | NP_005548.2:p.Thr120= | |
NM_005557.4:c.360_361delinsCA MANE Select | NP_005548.2:p.Thr120= |