Canonical Allele Identifier: CA2361138984

Gene: AHCY

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34293574_34293579delinsACCTGT , CM000682.2:g.34293574_34293579delinsACCTGT	GRCh38
NC_000020.10:g.32881380_32881385delinsACCTGT , CM000682.1:g.32881380_32881385delinsACCTGT	GRCh37
NC_000020.9:g.32345041_32345046delinsACCTGT	NCBI36
NG_012630.1:g.23224_23229delinsACAGGT
NG_012630.2:g.23224_23229delinsACAGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217426.7:c.295+502_295+507delinsACAGGT MANE Select	ENSP00000217426.2:n.295+502_295+507delinsACAGGT
ENST00000217426.6:c.295+502_295+507delinsACAGGT	ENSP00000217426.2:n.295+502_295+507delinsACAGGT
ENST00000468908.1:n.458+502_458+507delinsACAGGT
ENST00000480653.5:n.342+502_342+507delinsACAGGT
ENST00000538132.1:c.211+502_211+507delinsACAGGT	ENSP00000442820.1:n.211+502_211+507delinsACAGGT
ENST00000606061.1:n.1057_1062delinsACAGGT
NM_000687.2:c.295+502_295+507delinsACAGGT	NP_000678.1:n.295+502_295+507delinsACAGGT
NM_001161766.1:c.211+502_211+507delinsACAGGT	NP_001155238.1:n.211+502_211+507delinsACAGGT
XM_005260316.3:c.211+502_211+507delinsACAGGT	XP_005260373.1:n.211+502_211+507delinsACAGGT
XM_005260317.1:c.211+502_211+507delinsACAGGT	XP_005260374.1:n.211+502_211+507delinsACAGGT
XM_011528656.1:c.211+502_211+507delinsACAGGT	XP_011526958.1:n.211+502_211+507delinsACAGGT
XM_011528657.1:c.211+502_211+507delinsACAGGT	XP_011526959.1:n.211+502_211+507delinsACAGGT
XM_011528658.1:c.211+502_211+507delinsACAGGT	XP_011526960.1:n.211+502_211+507delinsACAGGT
XM_011528659.1:c.211+502_211+507delinsACAGGT	XP_011526961.1:n.211+502_211+507delinsACAGGT
XM_011528660.1:c.211+502_211+507delinsACAGGT	XP_011526962.1:n.211+502_211+507delinsACAGGT
NM_000687.3:c.295+502_295+507delinsACAGGT	NP_000678.1:n.295+502_295+507delinsACAGGT
NM_001322084.1:c.211+502_211+507delinsACAGGT	NP_001309013.1:n.211+502_211+507delinsACAGGT
NM_001322085.1:c.211+502_211+507delinsACAGGT	NP_001309014.1:n.211+502_211+507delinsACAGGT
NM_001322086.1:c.301+502_301+507delinsACAGGT	NP_001309015.1:n.301+502_301+507delinsACAGGT
NM_001362750.1:c.295+502_295+507delinsACAGGT	NP_001349679.1:n.295+502_295+507delinsACAGGT
XM_005260317.2:c.211+502_211+507delinsACAGGT	XP_005260374.1:n.211+502_211+507delinsACAGGT
XM_011528656.3:c.301+502_301+507delinsACAGGT	XP_011526958.2:n.301+502_301+507delinsACAGGT
XM_011528657.2:c.301+502_301+507delinsACAGGT	XP_011526959.2:n.301+502_301+507delinsACAGGT
XM_011528658.3:c.301+502_301+507delinsACAGGT	XP_011526960.2:n.301+502_301+507delinsACAGGT
XM_017027709.2:c.295+502_295+507delinsACAGGT	XP_016883198.1:n.295+502_295+507delinsACAGGT
XM_017027710.2:c.-130+502_-130+507delinsACAGGT	XP_016883199.1:n.-130+502_-130+507delinsACAGGT
NM_000687.4:c.295+502_295+507delinsACAGGT MANE Select	NP_000678.1:n.295+502_295+507delinsACAGGT
NM_001322084.2:c.211+502_211+507delinsACAGGT	NP_001309013.1:n.211+502_211+507delinsACAGGT
NM_001322085.2:c.211+502_211+507delinsACAGGT	NP_001309014.1:n.211+502_211+507delinsACAGGT
NM_001322086.2:c.301+502_301+507delinsACAGGT	NP_001309015.1:n.301+502_301+507delinsACAGGT
NM_001362750.2:c.295+502_295+507delinsACAGGT	NP_001349679.1:n.295+502_295+507delinsACAGGT
NM_001161766.2:c.211+502_211+507delinsACAGGT	NP_001155238.1:n.211+502_211+507delinsACAGGT