Canonical Allele Identifier: CA2361142742

Gene: AHCY

Linked Data

• dbSNP Id: rs2036778292

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34301710_34301711insA , CM000682.2:g.34301710_34301711insA	GRCh38
NC_000020.10:g.32889516_32889517insA , CM000682.1:g.32889516_32889517insA	GRCh37
NC_000020.9:g.32353177_32353178insA	NCBI36
NG_012630.1:g.15092_15093insT
NG_012630.2:g.15092_15093insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217426.7:c.28+1532_28+1533insT MANE Select	ENSP00000217426.2:n.28+1532_28+1533insT
ENST00000217426.6:c.28+1532_28+1533insT	ENSP00000217426.2:n.28+1532_28+1533insT
ENST00000468908.1:n.191+47_191+48insT
ENST00000473516.1:n.331+634_331+635insT
ENST00000480653.5:n.75+1532_75+1533insT
ENST00000538132.1:c.-56-6126_-56-6125insT	ENSP00000442820.1:n.-56-6126_-56-6125insT
ENST00000606061.1:n.115+1532_115+1533insT
NM_000687.2:c.28+1532_28+1533insT	NP_000678.1:n.28+1532_28+1533insT
NM_001161766.1:c.-56-6126_-56-6125insT	NP_001155238.1:n.-56-6126_-56-6125insT
XM_005260316.3:c.-57+47_-57+48insT	XP_005260373.1:n.-57+47_-57+48insT
XM_005260317.1:c.-57+905_-57+906insT	XP_005260374.1:n.-57+905_-57+906insT
XM_011528659.1:c.-56-6126_-56-6125insT	XP_011526961.1:n.-56-6126_-56-6125insT
XM_011528660.1:c.-57+225_-57+226insT	XP_011526962.1:n.-57+225_-57+226insT
NM_000687.3:c.28+1532_28+1533insT	NP_000678.1:n.28+1532_28+1533insT
NM_001322084.1:c.-57+47_-57+48insT	NP_001309013.1:n.-57+47_-57+48insT
NM_001322085.1:c.-57+225_-57+226insT	NP_001309014.1:n.-57+225_-57+226insT
NM_001322086.1:c.34+36_34+37insT	NP_001309015.1:n.34+36_34+37insT
NM_001362750.1:c.28+1532_28+1533insT	NP_001349679.1:n.28+1532_28+1533insT
XM_005260317.2:c.-57+905_-57+906insT	XP_005260374.1:n.-57+905_-57+906insT
XM_011528656.3:c.34+36_34+37insT	XP_011526958.2:n.34+36_34+37insT
XM_011528657.2:c.34+36_34+37insT	XP_011526959.2:n.34+36_34+37insT
XM_011528658.3:c.34+36_34+37insT	XP_011526960.2:n.34+36_34+37insT
XM_017027709.2:c.28+1532_28+1533insT	XP_016883198.1:n.28+1532_28+1533insT
XM_017027710.2:c.-397+1532_-397+1533insT	XP_016883199.1:n.-397+1532_-397+1533insT
NM_000687.4:c.28+1532_28+1533insT MANE Select	NP_000678.1:n.28+1532_28+1533insT
NM_001322084.2:c.-57+47_-57+48insT	NP_001309013.1:n.-57+47_-57+48insT
NM_001322085.2:c.-57+225_-57+226insT	NP_001309014.1:n.-57+225_-57+226insT
NM_001322086.2:c.34+36_34+37insT	NP_001309015.1:n.34+36_34+37insT
NM_001362750.2:c.28+1532_28+1533insT	NP_001349679.1:n.28+1532_28+1533insT
NM_001161766.2:c.-56-6126_-56-6125insT	NP_001155238.1:n.-56-6126_-56-6125insT