Canonical Allele Identifier: CA743853761

Gene: AHCY

Linked Data

• dbSNP Id: rs1482070628
• gnomAD v4: 20-34295158-GGAT-G
• MyVariant Identifiers: chr20:g.32882965_32882967del (hg19) ; chr20:g.34295159_34295161del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34295160_34295162del , CM000682.2:g.34295160_34295162del	GRCh38
NC_000020.10:g.32882966_32882968del , CM000682.1:g.32882966_32882968del	GRCh37
NC_000020.9:g.32346627_32346629del	NCBI36
NG_012630.1:g.21642_21644del
NG_012630.2:g.21642_21644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217426.7:c.219+234_219+236del MANE Select	ENSP00000217426.2:n.219+234_219+236del
ENST00000217426.6:c.219+234_219+236del	ENSP00000217426.2:n.219+234_219+236del
ENST00000468908.1:n.382+234_382+236del
ENST00000480653.5:n.266+234_266+236del
ENST00000538132.1:c.135+234_135+236del	ENSP00000442820.1:n.135+234_135+236del
ENST00000606061.1:n.479+61_479+63del
NM_000687.2:c.219+234_219+236del	NP_000678.1:n.219+234_219+236del
NM_001161766.1:c.135+234_135+236del	NP_001155238.1:n.135+234_135+236del
XM_005260316.3:c.135+234_135+236del	XP_005260373.1:n.135+234_135+236del
XM_005260317.1:c.135+234_135+236del	XP_005260374.1:n.135+234_135+236del
XM_011528656.1:c.135+234_135+236del	XP_011526958.1:n.135+234_135+236del
XM_011528657.1:c.135+234_135+236del	XP_011526959.1:n.135+234_135+236del
XM_011528658.1:c.135+234_135+236del	XP_011526960.1:n.135+234_135+236del
XM_011528659.1:c.135+234_135+236del	XP_011526961.1:n.135+234_135+236del
XM_011528660.1:c.135+234_135+236del	XP_011526962.1:n.135+234_135+236del
NM_000687.3:c.219+234_219+236del	NP_000678.1:n.219+234_219+236del
NM_001322084.1:c.135+234_135+236del	NP_001309013.1:n.135+234_135+236del
NM_001322085.1:c.135+234_135+236del	NP_001309014.1:n.135+234_135+236del
NM_001322086.1:c.225+234_225+236del	NP_001309015.1:n.225+234_225+236del
NM_001362750.1:c.219+234_219+236del	NP_001349679.1:n.219+234_219+236del
XM_005260317.2:c.135+234_135+236del	XP_005260374.1:n.135+234_135+236del
XM_011528656.3:c.225+234_225+236del	XP_011526958.2:n.225+234_225+236del
XM_011528657.2:c.225+234_225+236del	XP_011526959.2:n.225+234_225+236del
XM_011528658.3:c.225+234_225+236del	XP_011526960.2:n.225+234_225+236del
XM_017027709.2:c.219+234_219+236del	XP_016883198.1:n.219+234_219+236del
XM_017027710.2:c.-206+234_-206+236del	XP_016883199.1:n.-206+234_-206+236del
NM_000687.4:c.219+234_219+236del MANE Select	NP_000678.1:n.219+234_219+236del
NM_001322084.2:c.135+234_135+236del	NP_001309013.1:n.135+234_135+236del
NM_001322085.2:c.135+234_135+236del	NP_001309014.1:n.135+234_135+236del
NM_001322086.2:c.225+234_225+236del	NP_001309015.1:n.225+234_225+236del
NM_001362750.2:c.219+234_219+236del	NP_001349679.1:n.219+234_219+236del
NM_001161766.2:c.135+234_135+236del	NP_001155238.1:n.135+234_135+236del