Canonical Allele Identifier: CA1017110256

Gene: AHCY

Linked Data

• dbSNP Id: rs2035957782
• gnomAD v3: 20-34280210-C-CTA
• gnomAD v4: 20-34280210-C-CTA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34280212_34280213dup , CM000682.2:g.34280212_34280213dup	GRCh38
NC_000020.10:g.32868018_32868019dup , CM000682.1:g.32868018_32868019dup	GRCh37
NC_000020.9:g.32331679_32331680dup	NCBI36
NG_012630.1:g.36591_36592dup
NG_012630.2:g.36591_36592dup

Transcript Alleles

HGVS	Amino-acid Change
XM_011528657.1:c.*7+815_*7+816dup	XP_011526959.1:n.*7+815_*7+816dup
XM_011528658.1:c.*7+815_*7+816dup	XP_011526960.1:n.*7+815_*7+816dup
XM_011528657.2:c.*7+815_*7+816dup	XP_011526959.2:n.*7+815_*7+816dup
XM_011528658.3:c.*7+815_*7+816dup	XP_011526960.2:n.*7+815_*7+816dup
XM_017027709.2:c.*7+815_*7+816dup	XP_016883198.1:n.*7+815_*7+816dup