Canonical Allele Identifier: CA2652504402

Gene: AHCY

Linked Data

• gnomAD v4: 20-34293669-TGTGAAAACTCCATTCTCGTTAGACTTGGTCCTTCCTCAGTCCTTTAGACCGCCATACCCTAGGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34293675_34293739del , CM000682.2:g.34293675_34293739del	GRCh38
NC_000020.10:g.32881481_32881545del , CM000682.1:g.32881481_32881545del	GRCh37
NC_000020.9:g.32345142_32345206del	NCBI36
NG_012630.1:g.23069_23133del
NG_012630.2:g.23069_23133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217426.7:c.295+347_295+411del MANE Select	ENSP00000217426.2:n.295+347_295+411del
ENST00000217426.6:c.295+347_295+411del	ENSP00000217426.2:n.295+347_295+411del
ENST00000468908.1:n.458+347_458+411del
ENST00000480653.5:n.342+347_342+411del
ENST00000538132.1:c.211+347_211+411del	ENSP00000442820.1:n.211+347_211+411del
ENST00000606061.1:n.902_966del
NM_000687.2:c.295+347_295+411del	NP_000678.1:n.295+347_295+411del
NM_001161766.1:c.211+347_211+411del	NP_001155238.1:n.211+347_211+411del
XM_005260316.3:c.211+347_211+411del	XP_005260373.1:n.211+347_211+411del
XM_005260317.1:c.211+347_211+411del	XP_005260374.1:n.211+347_211+411del
XM_011528656.1:c.211+347_211+411del	XP_011526958.1:n.211+347_211+411del
XM_011528657.1:c.211+347_211+411del	XP_011526959.1:n.211+347_211+411del
XM_011528658.1:c.211+347_211+411del	XP_011526960.1:n.211+347_211+411del
XM_011528659.1:c.211+347_211+411del	XP_011526961.1:n.211+347_211+411del
XM_011528660.1:c.211+347_211+411del	XP_011526962.1:n.211+347_211+411del
NM_000687.3:c.295+347_295+411del	NP_000678.1:n.295+347_295+411del
NM_001322084.1:c.211+347_211+411del	NP_001309013.1:n.211+347_211+411del
NM_001322085.1:c.211+347_211+411del	NP_001309014.1:n.211+347_211+411del
NM_001322086.1:c.301+347_301+411del	NP_001309015.1:n.301+347_301+411del
NM_001362750.1:c.295+347_295+411del	NP_001349679.1:n.295+347_295+411del
XM_005260317.2:c.211+347_211+411del	XP_005260374.1:n.211+347_211+411del
XM_011528656.3:c.301+347_301+411del	XP_011526958.2:n.301+347_301+411del
XM_011528657.2:c.301+347_301+411del	XP_011526959.2:n.301+347_301+411del
XM_011528658.3:c.301+347_301+411del	XP_011526960.2:n.301+347_301+411del
XM_017027709.2:c.295+347_295+411del	XP_016883198.1:n.295+347_295+411del
XM_017027710.2:c.-130+347_-130+411del	XP_016883199.1:n.-130+347_-130+411del
NM_000687.4:c.295+347_295+411del MANE Select	NP_000678.1:n.295+347_295+411del
NM_001322084.2:c.211+347_211+411del	NP_001309013.1:n.211+347_211+411del
NM_001322085.2:c.211+347_211+411del	NP_001309014.1:n.211+347_211+411del
NM_001322086.2:c.301+347_301+411del	NP_001309015.1:n.301+347_301+411del
NM_001362750.2:c.295+347_295+411del	NP_001349679.1:n.295+347_295+411del
NM_001161766.2:c.211+347_211+411del	NP_001155238.1:n.211+347_211+411del