Canonical Allele Identifier: CA2612837703

Gene: ANO5

Linked Data

• gnomAD v4: 11-22259597-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259600del , CM000673.2:g.22259600del	GRCh38
NC_000011.9:g.22281146del , CM000673.1:g.22281146del	GRCh37
NC_000011.8:g.22237722del	NCBI36
NG_015844.1:g.71425del , LRG_868:g.71425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.1039del	ENSP00000507766.1:p.Ser347ValfsTer5
ENST00000682341.1:c.1447del	ENSP00000508251.1:p.Ser483ValfsTer5
ENST00000683197.1:c.1447del	ENSP00000507641.1:p.Ser483ValfsTer5
ENST00000683411.1:c.1039del	ENSP00000508397.1:p.Ser347ValfsTer5
ENST00000683437.1:c.1039del	ENSP00000508408.1:p.Ser347ValfsTer5
ENST00000683613.1:n.2483del
ENST00000684663.1:c.1444del	ENSP00000508009.1:p.Ser482ValfsTer5
ENST00000324559.9:c.1489del MANE Select	ENSP00000315371.9:p.Ser497ValfsTer5
ENST00000648804.1:n.1824del
ENST00000324559.8:c.1489del	ENSP00000315371.8:p.Ser497ValfsTer5
NM_001142649.1:c.1486del	NP_001136121.1:p.Ser496ValfsTer5
NM_213599.2:c.1489del , LRG_868t1:c.1489del	NP_998764.1:p.Ser497ValfsTer5
XM_005252820.2:c.1447del	XP_005252877.2:p.Ser483ValfsTer5
XM_005252821.2:c.1444del	XP_005252878.2:p.Ser482ValfsTer5
XM_005252822.3:c.1411del	XP_005252879.1:p.Ser471ValfsTer5
XM_005252823.3:c.1408del	XP_005252880.1:p.Ser470ValfsTer5
XM_011519949.1:c.1396del	XP_011518251.1:p.Ser466ValfsTer5
XM_005252820.3:c.1447del	XP_005252877.2:p.Ser483ValfsTer5
XM_005252821.3:c.1444del	XP_005252878.2:p.Ser482ValfsTer5
XM_005252822.4:c.1411del	XP_005252879.1:p.Ser471ValfsTer5
XM_011519949.2:c.1396del	XP_011518251.1:p.Ser466ValfsTer5
NM_001142649.2:c.1486del	NP_001136121.1:p.Ser496ValfsTer5
NM_213599.3:c.1489del MANE Select	NP_998764.1:p.Ser497ValfsTer5