HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94762786_94762787insGT , CM000672.2:g.94762786_94762787insGT | GRCh38 |
NC_000010.10:g.96522543_96522544insGT , CM000672.1:g.96522543_96522544insGT | GRCh37 |
NC_000010.9:g.96512533_96512534insGT | NCBI36 |
NG_008384.2:g.5081_5082insGT | |
NG_008384.3:g.5106_5107insGT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.81_82insGT MANE Select | ENSP00000360372.3:p.Lys28ValfsTer12 | |
ENST00000371321.7:c.81_82insGT | ENSP00000360372.3:p.Lys28ValfsTer12 | |
ENST00000464755.1:c.932-12272_932-12271insGT | ENSP00000483243.1:n.932-12272_932-12271insGT | |
ENST00000480405.2:c.81_82insGT | ENSP00000483847.1:p.Lys28ValfsTer12 | |
NM_000769.2:c.81_82insGT | NP_000760.1:p.Lys28ValfsTer12 | |
NM_000769.4:c.81_82insGT MANE Select | NP_000760.1:p.Lys28ValfsTer12 |