Canonical Allele Identifier: CA2816206057
Gene: AHCY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34294096_34294097insTC , CM000682.2:g.34294096_34294097insTC GRCh38
NC_000020.10:g.32881902_32881903insTC , CM000682.1:g.32881902_32881903insTC GRCh37
NC_000020.9:g.32345563_32345564insTC NCBI36
NG_012630.1:g.22706_22707insGA
NG_012630.2:g.22706_22707insGA

Transcript Alleles

HGVS Amino-acid change
ENST00000217426.7:c.279_280insGA MANE Select ENSP00000217426.2:p.Lys94GlufsTer?
ENST00000217426.6:c.279_280insGA ENSP00000217426.2:p.Lys94GlufsTer?
ENST00000468908.1:n.442_443insGA
ENST00000480653.5:n.326_327insGA
ENST00000538132.1:c.195_196insGA ENSP00000442820.1:p.Lys66GlufsTer?
ENST00000606061.1:n.539_540insGA
NM_000687.2:c.279_280insGA NP_000678.1:p.Lys94GlufsTer?
NM_001161766.1:c.195_196insGA NP_001155238.1:p.Lys66GlufsTer?
XM_005260316.3:c.195_196insGA XP_005260373.1:p.Lys66GlufsTer?
XM_005260317.1:c.195_196insGA XP_005260374.1:p.Lys66GlufsTer?
XM_011528656.1:c.195_196insGA XP_011526958.1:p.Lys66GlufsTer?
XM_011528657.1:c.195_196insGA XP_011526959.1:p.Lys66GlufsTer?
XM_011528658.1:c.195_196insGA XP_011526960.1:p.Lys66GlufsTer?
XM_011528659.1:c.195_196insGA XP_011526961.1:p.Lys66GlufsTer?
XM_011528660.1:c.195_196insGA XP_011526962.1:p.Lys66GlufsTer?
NM_000687.3:c.279_280insGA NP_000678.1:p.Lys94GlufsTer?
NM_001322084.1:c.195_196insGA NP_001309013.1:p.Lys66GlufsTer?
NM_001322085.1:c.195_196insGA NP_001309014.1:p.Lys66GlufsTer?
NM_001322086.1:c.285_286insGA NP_001309015.1:p.Lys96GlufsTer?
NM_001362750.1:c.279_280insGA NP_001349679.1:p.Lys94GlufsTer?
XM_005260317.2:c.195_196insGA XP_005260374.1:p.Lys66GlufsTer?
XM_011528656.3:c.285_286insGA XP_011526958.2:p.Lys96GlufsTer?
XM_011528657.2:c.285_286insGA XP_011526959.2:p.Lys96GlufsTer?
XM_011528658.3:c.285_286insGA XP_011526960.2:p.Lys96GlufsTer?
XM_017027709.2:c.279_280insGA XP_016883198.1:p.Lys94GlufsTer?
XM_017027710.2:c.-146_-145insGA XP_016883199.1:n.-146_-145insGA
NM_000687.4:c.279_280insGA MANE Select NP_000678.1:p.Lys94GlufsTer?
NM_001322084.2:c.195_196insGA NP_001309013.1:p.Lys66GlufsTer?
NM_001322085.2:c.195_196insGA NP_001309014.1:p.Lys66GlufsTer?
NM_001322086.2:c.285_286insGA NP_001309015.1:p.Lys96GlufsTer?
NM_001362750.2:c.279_280insGA NP_001349679.1:p.Lys94GlufsTer?
NM_001161766.2:c.195_196insGA NP_001155238.1:p.Lys66GlufsTer?