Canonical Allele Identifier: CA2577375308

Gene: AHCY

Linked Data

• gnomAD v4: 20-34301716-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34301721del , CM000682.2:g.34301721del	GRCh38
NC_000020.10:g.32889527del , CM000682.1:g.32889527del	GRCh37
NC_000020.9:g.32353188del	NCBI36
NG_012630.1:g.15086del
NG_012630.2:g.15086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217426.7:c.28+1526del MANE Select	ENSP00000217426.2:n.28+1526del
ENST00000217426.6:c.28+1526del	ENSP00000217426.2:n.28+1526del
ENST00000468908.1:n.191+41del
ENST00000473516.1:n.331+628del
ENST00000480653.5:n.75+1526del
ENST00000538132.1:c.-56-6132del	ENSP00000442820.1:n.-56-6132del
ENST00000606061.1:n.115+1526del
NM_000687.2:c.28+1526del	NP_000678.1:n.28+1526del
NM_001161766.1:c.-56-6132del	NP_001155238.1:n.-56-6132del
XM_005260316.3:c.-57+41del	XP_005260373.1:n.-57+41del
XM_005260317.1:c.-57+899del	XP_005260374.1:n.-57+899del
XM_011528659.1:c.-56-6132del	XP_011526961.1:n.-56-6132del
XM_011528660.1:c.-57+219del	XP_011526962.1:n.-57+219del
NM_000687.3:c.28+1526del	NP_000678.1:n.28+1526del
NM_001322084.1:c.-57+41del	NP_001309013.1:n.-57+41del
NM_001322085.1:c.-57+219del	NP_001309014.1:n.-57+219del
NM_001322086.1:c.34+30del	NP_001309015.1:n.34+30del
NM_001362750.1:c.28+1526del	NP_001349679.1:n.28+1526del
XM_005260317.2:c.-57+899del	XP_005260374.1:n.-57+899del
XM_011528656.3:c.34+30del	XP_011526958.2:n.34+30del
XM_011528657.2:c.34+30del	XP_011526959.2:n.34+30del
XM_011528658.3:c.34+30del	XP_011526960.2:n.34+30del
XM_017027709.2:c.28+1526del	XP_016883198.1:n.28+1526del
XM_017027710.2:c.-397+1526del	XP_016883199.1:n.-397+1526del
NM_000687.4:c.28+1526del MANE Select	NP_000678.1:n.28+1526del
NM_001322084.2:c.-57+41del	NP_001309013.1:n.-57+41del
NM_001322085.2:c.-57+219del	NP_001309014.1:n.-57+219del
NM_001322086.2:c.34+30del	NP_001309015.1:n.34+30del
NM_001362750.2:c.28+1526del	NP_001349679.1:n.28+1526del
NM_001161766.2:c.-56-6132del	NP_001155238.1:n.-56-6132del