Canonical Allele Identifier: CA597910750

Gene: ANO5

Linked Data

• dbSNP Id: rs1302774605
• gnomAD v2: 11-22271899-TG-T
• gnomAD v4: 11-22250353-TG-T
• MyVariant Identifiers: chr11:g.22271900del (hg19) ; chr11:g.22250354del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250355del , CM000673.2:g.22250355del	GRCh38
NC_000011.9:g.22271901del , CM000673.1:g.22271901del	GRCh37
NC_000011.8:g.22228477del	NCBI36
NG_015844.1:g.62180del , LRG_868:g.62180del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682089.1:n.317del
ENST00000682266.1:c.547del	ENSP00000507766.1:p.Glu183AsnfsTer18
ENST00000682341.1:c.955del	ENSP00000508251.1:p.Glu319AsnfsTer18
ENST00000682530.1:c.*929del	ENSP00000506805.1:n.*929del
ENST00000683197.1:c.955del	ENSP00000507641.1:p.Glu319AsnfsTer18
ENST00000683411.1:c.547del	ENSP00000508397.1:p.Glu183AsnfsTer18
ENST00000683437.1:c.547del	ENSP00000508408.1:p.Glu183AsnfsTer18
ENST00000683613.1:n.1991del
ENST00000683834.1:n.1197del
ENST00000684663.1:c.952del	ENSP00000508009.1:p.Glu318AsnfsTer18
ENST00000324559.9:c.997del MANE Select	ENSP00000315371.9:p.Glu333AsnfsTer18
ENST00000648804.1:n.1332del
ENST00000324559.8:c.997del	ENSP00000315371.8:p.Glu333AsnfsTer18
NM_001142649.1:c.994del	NP_001136121.1:p.Glu332AsnfsTer18
NM_213599.2:c.997del , LRG_868t1:c.997del	NP_998764.1:p.Glu333AsnfsTer18
XM_005252820.2:c.955del	XP_005252877.2:p.Glu319AsnfsTer18
XM_005252821.2:c.952del	XP_005252878.2:p.Glu318AsnfsTer18
XM_005252822.3:c.919del	XP_005252879.1:p.Glu307AsnfsTer18
XM_005252823.3:c.916del	XP_005252880.1:p.Glu306AsnfsTer18
XM_011519949.1:c.904del	XP_011518251.1:p.Glu302AsnfsTer18
XM_005252820.3:c.955del	XP_005252877.2:p.Glu319AsnfsTer18
XM_005252821.3:c.952del	XP_005252878.2:p.Glu318AsnfsTer18
XM_005252822.4:c.919del	XP_005252879.1:p.Glu307AsnfsTer18
XM_011519949.2:c.904del	XP_011518251.1:p.Glu302AsnfsTer18
NM_001142649.2:c.994del	NP_001136121.1:p.Glu332AsnfsTer18
NM_213599.3:c.997del MANE Select	NP_998764.1:p.Glu333AsnfsTer18