Canonical Allele Identifier: CA313353386

Gene: AHCY

Linked Data

• dbSNP Id: rs1041047686
• MyVariant Identifiers: chr20:g.32881912_32881913insG (hg19) ; chr20:g.34294106_34294107insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34294107dup , CM000682.2:g.34294107dup	GRCh38
NC_000020.10:g.32881913dup , CM000682.1:g.32881913dup	GRCh37
NC_000020.9:g.32345574dup	NCBI36
NG_012630.1:g.22696dup
NG_012630.2:g.22696dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000217426.7:c.269dup MANE Select	ENSP00000217426.2:p.Ala91CysfsTer25
ENST00000217426.6:c.269dup	ENSP00000217426.2:p.Ala91CysfsTer25
ENST00000468908.1:n.432dup
ENST00000480653.5:n.316dup
ENST00000538132.1:c.185dup	ENSP00000442820.1:p.Ala63CysfsTer25
ENST00000606061.1:n.529dup
NM_000687.2:c.269dup	NP_000678.1:p.Ala91CysfsTer25
NM_001161766.1:c.185dup	NP_001155238.1:p.Ala63CysfsTer25
XM_005260316.3:c.185dup	XP_005260373.1:p.Ala63CysfsTer25
XM_005260317.1:c.185dup	XP_005260374.1:p.Ala63CysfsTer25
XM_011528656.1:c.185dup	XP_011526958.1:p.Ala63CysfsTer25
XM_011528657.1:c.185dup	XP_011526959.1:p.Ala63CysfsTer25
XM_011528658.1:c.185dup	XP_011526960.1:p.Ala63CysfsTer25
XM_011528659.1:c.185dup	XP_011526961.1:p.Ala63CysfsTer25
XM_011528660.1:c.185dup	XP_011526962.1:p.Ala63CysfsTer25
NM_000687.3:c.269dup	NP_000678.1:p.Ala91CysfsTer25
NM_001322084.1:c.185dup	NP_001309013.1:p.Ala63CysfsTer25
NM_001322085.1:c.185dup	NP_001309014.1:p.Ala63CysfsTer25
NM_001322086.1:c.275dup	NP_001309015.1:p.Ala93CysfsTer25
NM_001362750.1:c.269dup	NP_001349679.1:p.Ala91CysfsTer25
XM_005260317.2:c.185dup	XP_005260374.1:p.Ala63CysfsTer25
XM_011528656.3:c.275dup	XP_011526958.2:p.Ala93CysfsTer25
XM_011528657.2:c.275dup	XP_011526959.2:p.Ala93CysfsTer25
XM_011528658.3:c.275dup	XP_011526960.2:p.Ala93CysfsTer25
XM_017027709.2:c.269dup	XP_016883198.1:p.Ala91CysfsTer25
XM_017027710.2:c.-156dup	XP_016883199.1:n.-156dup
NM_000687.4:c.269dup MANE Select	NP_000678.1:p.Ala91CysfsTer25
NM_001322084.2:c.185dup	NP_001309013.1:p.Ala63CysfsTer25
NM_001322085.2:c.185dup	NP_001309014.1:p.Ala63CysfsTer25
NM_001322086.2:c.275dup	NP_001309015.1:p.Ala93CysfsTer25
NM_001362750.2:c.269dup	NP_001349679.1:p.Ala91CysfsTer25
NM_001161766.2:c.185dup	NP_001155238.1:p.Ala63CysfsTer25