Canonical Allele Identifier: CA1017100023

Gene: AHCY

Linked Data

• dbSNP Id: rs2036473024
• gnomAD v3: 20-34293560-ACCCCCTCCTGTCC-A
• gnomAD v4: 20-34293560-ACCCCCTCCTGTCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34293561_34293573del , CM000682.2:g.34293561_34293573del	GRCh38
NC_000020.10:g.32881367_32881379del , CM000682.1:g.32881367_32881379del	GRCh37
NC_000020.9:g.32345028_32345040del	NCBI36
NG_012630.1:g.23230_23242del
NG_012630.2:g.23230_23242del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217426.7:c.295+508_295+520del MANE Select	ENSP00000217426.2:n.295+508_295+520del
ENST00000217426.6:c.295+508_295+520del	ENSP00000217426.2:n.295+508_295+520del
ENST00000468908.1:n.458+508_458+520del
ENST00000480653.5:n.342+508_342+520del
ENST00000538132.1:c.211+508_211+520del	ENSP00000442820.1:n.211+508_211+520del
ENST00000606061.1:n.1063_1075del
NM_000687.2:c.295+508_295+520del	NP_000678.1:n.295+508_295+520del
NM_001161766.1:c.211+508_211+520del	NP_001155238.1:n.211+508_211+520del
XM_005260316.3:c.211+508_211+520del	XP_005260373.1:n.211+508_211+520del
XM_005260317.1:c.211+508_211+520del	XP_005260374.1:n.211+508_211+520del
XM_011528656.1:c.211+508_211+520del	XP_011526958.1:n.211+508_211+520del
XM_011528657.1:c.211+508_211+520del	XP_011526959.1:n.211+508_211+520del
XM_011528658.1:c.211+508_211+520del	XP_011526960.1:n.211+508_211+520del
XM_011528659.1:c.211+508_211+520del	XP_011526961.1:n.211+508_211+520del
XM_011528660.1:c.211+508_211+520del	XP_011526962.1:n.211+508_211+520del
NM_000687.3:c.295+508_295+520del	NP_000678.1:n.295+508_295+520del
NM_001322084.1:c.211+508_211+520del	NP_001309013.1:n.211+508_211+520del
NM_001322085.1:c.211+508_211+520del	NP_001309014.1:n.211+508_211+520del
NM_001322086.1:c.301+508_301+520del	NP_001309015.1:n.301+508_301+520del
NM_001362750.1:c.295+508_295+520del	NP_001349679.1:n.295+508_295+520del
XM_005260317.2:c.211+508_211+520del	XP_005260374.1:n.211+508_211+520del
XM_011528656.3:c.301+508_301+520del	XP_011526958.2:n.301+508_301+520del
XM_011528657.2:c.301+508_301+520del	XP_011526959.2:n.301+508_301+520del
XM_011528658.3:c.301+508_301+520del	XP_011526960.2:n.301+508_301+520del
XM_017027709.2:c.295+508_295+520del	XP_016883198.1:n.295+508_295+520del
XM_017027710.2:c.-130+508_-130+520del	XP_016883199.1:n.-130+508_-130+520del
NM_000687.4:c.295+508_295+520del MANE Select	NP_000678.1:n.295+508_295+520del
NM_001322084.2:c.211+508_211+520del	NP_001309013.1:n.211+508_211+520del
NM_001322085.2:c.211+508_211+520del	NP_001309014.1:n.211+508_211+520del
NM_001322086.2:c.301+508_301+520del	NP_001309015.1:n.301+508_301+520del
NM_001362750.2:c.295+508_295+520del	NP_001349679.1:n.295+508_295+520del
NM_001161766.2:c.211+508_211+520del	NP_001155238.1:n.211+508_211+520del