Canonical Allele Identifier: CA743853804

Gene: AHCY

Linked Data

• dbSNP Id: rs1438291034
• gnomAD v2: 20-32883143-TCC-T
• gnomAD v3: 20-34295337-TCC-T
• gnomAD v4: 20-34295337-TCC-T
• MyVariant Identifiers: chr20:g.32883144_32883145del (hg19) ; chr20:g.34295338_34295339del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34295339_34295340del , CM000682.2:g.34295339_34295340del	GRCh38
NC_000020.10:g.32883145_32883146del , CM000682.1:g.32883145_32883146del	GRCh37
NC_000020.9:g.32346806_32346807del	NCBI36
NG_012630.1:g.21464_21465del
NG_012630.2:g.21464_21465del

Transcript Alleles

HGVS	Amino-acid change
ENST00000217426.7:c.219+56_219+57del MANE Select	ENSP00000217426.2:n.219+56_219+57del
ENST00000217426.6:c.219+56_219+57del	ENSP00000217426.2:n.219+56_219+57del
ENST00000468908.1:n.382+56_382+57del
ENST00000480653.5:n.266+56_266+57del
ENST00000538132.1:c.135+56_135+57del	ENSP00000442820.1:n.135+56_135+57del
ENST00000606061.1:n.362_363del
NM_000687.2:c.219+56_219+57del	NP_000678.1:n.219+56_219+57del
NM_001161766.1:c.135+56_135+57del	NP_001155238.1:n.135+56_135+57del
XM_005260316.3:c.135+56_135+57del	XP_005260373.1:n.135+56_135+57del
XM_005260317.1:c.135+56_135+57del	XP_005260374.1:n.135+56_135+57del
XM_011528656.1:c.135+56_135+57del	XP_011526958.1:n.135+56_135+57del
XM_011528657.1:c.135+56_135+57del	XP_011526959.1:n.135+56_135+57del
XM_011528658.1:c.135+56_135+57del	XP_011526960.1:n.135+56_135+57del
XM_011528659.1:c.135+56_135+57del	XP_011526961.1:n.135+56_135+57del
XM_011528660.1:c.135+56_135+57del	XP_011526962.1:n.135+56_135+57del
NM_000687.3:c.219+56_219+57del	NP_000678.1:n.219+56_219+57del
NM_001322084.1:c.135+56_135+57del	NP_001309013.1:n.135+56_135+57del
NM_001322085.1:c.135+56_135+57del	NP_001309014.1:n.135+56_135+57del
NM_001322086.1:c.225+56_225+57del	NP_001309015.1:n.225+56_225+57del
NM_001362750.1:c.219+56_219+57del	NP_001349679.1:n.219+56_219+57del
XM_005260317.2:c.135+56_135+57del	XP_005260374.1:n.135+56_135+57del
XM_011528656.3:c.225+56_225+57del	XP_011526958.2:n.225+56_225+57del
XM_011528657.2:c.225+56_225+57del	XP_011526959.2:n.225+56_225+57del
XM_011528658.3:c.225+56_225+57del	XP_011526960.2:n.225+56_225+57del
XM_017027709.2:c.219+56_219+57del	XP_016883198.1:n.219+56_219+57del
XM_017027710.2:c.-206+56_-206+57del	XP_016883199.1:n.-206+56_-206+57del
NM_000687.4:c.219+56_219+57del MANE Select	NP_000678.1:n.219+56_219+57del
NM_001322084.2:c.135+56_135+57del	NP_001309013.1:n.135+56_135+57del
NM_001322085.2:c.135+56_135+57del	NP_001309014.1:n.135+56_135+57del
NM_001322086.2:c.225+56_225+57del	NP_001309015.1:n.225+56_225+57del
NM_001362750.2:c.219+56_219+57del	NP_001349679.1:n.219+56_219+57del
NM_001161766.2:c.135+56_135+57del	NP_001155238.1:n.135+56_135+57del