Canonical Allele Identifier: CA2361142743

Gene: AHCY

Linked Data

• dbSNP Id: rs2036778406

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34301713_34301715del , CM000682.2:g.34301713_34301715del	GRCh38
NC_000020.10:g.32889519_32889521del , CM000682.1:g.32889519_32889521del	GRCh37
NC_000020.9:g.32353180_32353182del	NCBI36
NG_012630.1:g.15089_15091del
NG_012630.2:g.15089_15091del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217426.7:c.28+1529_28+1531del MANE Select	ENSP00000217426.2:n.28+1529_28+1531del
ENST00000217426.6:c.28+1529_28+1531del	ENSP00000217426.2:n.28+1529_28+1531del
ENST00000468908.1:n.191+44_191+46del
ENST00000473516.1:n.331+631_331+633del
ENST00000480653.5:n.75+1529_75+1531del
ENST00000538132.1:c.-56-6129_-56-6127del	ENSP00000442820.1:n.-56-6129_-56-6127del
ENST00000606061.1:n.115+1529_115+1531del
NM_000687.2:c.28+1529_28+1531del	NP_000678.1:n.28+1529_28+1531del
NM_001161766.1:c.-56-6129_-56-6127del	NP_001155238.1:n.-56-6129_-56-6127del
XM_005260316.3:c.-57+44_-57+46del	XP_005260373.1:n.-57+44_-57+46del
XM_005260317.1:c.-57+902_-57+904del	XP_005260374.1:n.-57+902_-57+904del
XM_011528659.1:c.-56-6129_-56-6127del	XP_011526961.1:n.-56-6129_-56-6127del
XM_011528660.1:c.-57+222_-57+224del	XP_011526962.1:n.-57+222_-57+224del
NM_000687.3:c.28+1529_28+1531del	NP_000678.1:n.28+1529_28+1531del
NM_001322084.1:c.-57+44_-57+46del	NP_001309013.1:n.-57+44_-57+46del
NM_001322085.1:c.-57+222_-57+224del	NP_001309014.1:n.-57+222_-57+224del
NM_001322086.1:c.34+33_34+35del	NP_001309015.1:n.34+33_34+35del
NM_001362750.1:c.28+1529_28+1531del	NP_001349679.1:n.28+1529_28+1531del
XM_005260317.2:c.-57+902_-57+904del	XP_005260374.1:n.-57+902_-57+904del
XM_011528656.3:c.34+33_34+35del	XP_011526958.2:n.34+33_34+35del
XM_011528657.2:c.34+33_34+35del	XP_011526959.2:n.34+33_34+35del
XM_011528658.3:c.34+33_34+35del	XP_011526960.2:n.34+33_34+35del
XM_017027709.2:c.28+1529_28+1531del	XP_016883198.1:n.28+1529_28+1531del
XM_017027710.2:c.-397+1529_-397+1531del	XP_016883199.1:n.-397+1529_-397+1531del
NM_000687.4:c.28+1529_28+1531del MANE Select	NP_000678.1:n.28+1529_28+1531del
NM_001322084.2:c.-57+44_-57+46del	NP_001309013.1:n.-57+44_-57+46del
NM_001322085.2:c.-57+222_-57+224del	NP_001309014.1:n.-57+222_-57+224del
NM_001322086.2:c.34+33_34+35del	NP_001309015.1:n.34+33_34+35del
NM_001362750.2:c.28+1529_28+1531del	NP_001349679.1:n.28+1529_28+1531del
NM_001161766.2:c.-56-6129_-56-6127del	NP_001155238.1:n.-56-6129_-56-6127del