Canonical Allele Identifier: CA2838637380
Gene: AHCY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34292320dup , CM000682.2:g.34292320dup GRCh38
NC_000020.10:g.32880126dup , CM000682.1:g.32880126dup GRCh37
NC_000020.9:g.32343787dup NCBI36
NG_012630.1:g.24484dup
NG_012630.2:g.24484dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000217426.7:c.445+39dup MANE Select ENSP00000217426.2:n.445+39dup
ENST00000217426.6:c.445+39dup ENSP00000217426.2:n.445+39dup
ENST00000468908.1:n.608+39dup
ENST00000480653.5:n.492+39dup
ENST00000538132.1:c.361+39dup ENSP00000442820.1:n.361+39dup
NM_000687.2:c.445+39dup NP_000678.1:n.445+39dup
NM_001161766.1:c.361+39dup NP_001155238.1:n.361+39dup
XM_005260316.3:c.361+39dup XP_005260373.1:n.361+39dup
XM_005260317.1:c.361+39dup XP_005260374.1:n.361+39dup
XM_011528656.1:c.361+39dup XP_011526958.1:n.361+39dup
XM_011528657.1:c.361+39dup XP_011526959.1:n.361+39dup
XM_011528658.1:c.361+39dup XP_011526960.1:n.361+39dup
XM_011528659.1:c.361+39dup XP_011526961.1:n.361+39dup
XM_011528660.1:c.361+39dup XP_011526962.1:n.361+39dup
NM_000687.3:c.445+39dup NP_000678.1:n.445+39dup
NM_001322084.1:c.361+39dup NP_001309013.1:n.361+39dup
NM_001322085.1:c.361+39dup NP_001309014.1:n.361+39dup
NM_001322086.1:c.451+39dup NP_001309015.1:n.451+39dup
NM_001362750.1:c.445+39dup NP_001349679.1:n.445+39dup
XM_005260317.2:c.361+39dup XP_005260374.1:n.361+39dup
XM_011528656.3:c.451+39dup XP_011526958.2:n.451+39dup
XM_011528657.2:c.451+39dup XP_011526959.2:n.451+39dup
XM_011528658.3:c.451+39dup XP_011526960.2:n.451+39dup
XM_017027709.2:c.445+39dup XP_016883198.1:n.445+39dup
XM_017027710.2:c.67+39dup XP_016883199.1:n.67+39dup
NM_000687.4:c.445+39dup MANE Select NP_000678.1:n.445+39dup
NM_001322084.2:c.361+39dup NP_001309013.1:n.361+39dup
NM_001322085.2:c.361+39dup NP_001309014.1:n.361+39dup
NM_001322086.2:c.451+39dup NP_001309015.1:n.451+39dup
NM_001362750.2:c.445+39dup NP_001349679.1:n.445+39dup
NM_001161766.2:c.361+39dup NP_001155238.1:n.361+39dup