HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612518_41612519insTTCT , CM000679.2:g.41612518_41612519insTTCT | GRCh38 |
NC_000017.10:g.39768770_39768771insTTCT , CM000679.1:g.39768770_39768771insTTCT | GRCh37 |
NC_000017.9:g.37022296_37022297insTTCT | NCBI36 |
NG_008301.1:g.5309_5310insAGAA |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.170_171insAGAA MANE Select | ENSP00000301653.3:p.Ser58GlufsTer24 | |
ENST00000301653.8:c.170_171insAGAA | ENSP00000301653.3:p.Ser58GlufsTer24 | |
ENST00000588319.1:n.247_248insAGAA | ||
ENST00000593067.1:c.-312-233_-312-232insAGAA | ENSP00000467124.1:n.-312-233_-312-232insAGAA | |
NM_005557.3:c.170_171insAGAA | NP_005548.2:p.Ser58GlufsTer24 | |
NM_005557.4:c.170_171insAGAA MANE Select | NP_005548.2:p.Ser58GlufsTer24 |