Canonical Allele Identifier: CA1017100626

Gene: AHCY

Linked Data

• dbSNP Id: rs2036541970
• gnomAD v3: 20-34295414-AG-A
• gnomAD v4: 20-34295414-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34295417del , CM000682.2:g.34295417del	GRCh38
NC_000020.10:g.32883223del , CM000682.1:g.32883223del	GRCh37
NC_000020.9:g.32346884del	NCBI36
NG_012630.1:g.21388del
NG_012630.2:g.21388del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217426.7:c.199del MANE Select	ENSP00000217426.2:p.Leu67SerfsTer?
ENST00000217426.6:c.199del	ENSP00000217426.2:p.Leu67SerfsTer?
ENST00000468908.1:n.362del
ENST00000480653.5:n.246del
ENST00000538132.1:c.115del	ENSP00000442820.1:p.Leu39SerfsTer?
ENST00000606061.1:n.286del
NM_000687.2:c.199del	NP_000678.1:p.Leu67SerfsTer?
NM_001161766.1:c.115del	NP_001155238.1:p.Leu39SerfsTer?
XM_005260316.3:c.115del	XP_005260373.1:p.Leu39SerfsTer?
XM_005260317.1:c.115del	XP_005260374.1:p.Leu39SerfsTer?
XM_011528656.1:c.115del	XP_011526958.1:p.Leu39SerfsTer?
XM_011528657.1:c.115del	XP_011526959.1:p.Leu39SerfsTer?
XM_011528658.1:c.115del	XP_011526960.1:p.Leu39SerfsTer?
XM_011528659.1:c.115del	XP_011526961.1:p.Leu39SerfsTer?
XM_011528660.1:c.115del	XP_011526962.1:p.Leu39SerfsTer?
NM_000687.3:c.199del	NP_000678.1:p.Leu67SerfsTer?
NM_001322084.1:c.115del	NP_001309013.1:p.Leu39SerfsTer?
NM_001322085.1:c.115del	NP_001309014.1:p.Leu39SerfsTer?
NM_001322086.1:c.205del	NP_001309015.1:p.Leu69SerfsTer?
NM_001362750.1:c.199del	NP_001349679.1:p.Leu67SerfsTer?
XM_005260317.2:c.115del	XP_005260374.1:p.Leu39SerfsTer?
XM_011528656.3:c.205del	XP_011526958.2:p.Leu69SerfsTer?
XM_011528657.2:c.205del	XP_011526959.2:p.Leu69SerfsTer?
XM_011528658.3:c.205del	XP_011526960.2:p.Leu69SerfsTer?
XM_017027709.2:c.199del	XP_016883198.1:p.Leu67SerfsTer?
XM_017027710.2:c.-226del	XP_016883199.1:n.-226del
NM_000687.4:c.199del MANE Select	NP_000678.1:p.Leu67SerfsTer?
NM_001322084.2:c.115del	NP_001309013.1:p.Leu39SerfsTer?
NM_001322085.2:c.115del	NP_001309014.1:p.Leu39SerfsTer?
NM_001322086.2:c.205del	NP_001309015.1:p.Leu69SerfsTer?
NM_001362750.2:c.199del	NP_001349679.1:p.Leu67SerfsTer?
NM_001161766.2:c.115del	NP_001155238.1:p.Leu39SerfsTer?