HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41586365_41586367delinsCTG , CM000679.2:g.41586365_41586367delinsCTG | GRCh38 |
NC_000017.10:g.39742617_39742619delinsCTG , CM000679.1:g.39742617_39742619delinsCTG | GRCh37 |
NC_000017.9:g.36996143_36996145delinsCTG | NCBI36 |
NG_008624.1:g.5529_5531delinsCAG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000167586.7:c.468_470delinsCAG MANE Select | ENSP00000167586.6:p.Ala157Ser | |
ENST00000167586.6:c.468_470delinsCAG | ENSP00000167586.6:p.Ala157Ser | |
NM_000526.4:c.468_470delinsCAG | NP_000517.2:p.Ala157Ser | |
NM_000526.5:c.468_470delinsCAG MANE Select | NP_000517.3:p.Ala157Ser |