Canonical Allele Identifier: CA10604395
Gene: ANO5 HGNC NCBI

Linked Data

ClinVar Variation Id: 283095
ClinVar RCV Id: RCV000343001
dbSNP Id: rs886042556

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22279622del , CM000673.2:g.22279622del GRCh38
NC_000011.9:g.22301168del , CM000673.1:g.22301168del GRCh37
NC_000011.8:g.22257744del NCBI36
NG_015844.1:g.91447del , LRG_868:g.91447del

Transcript Alleles

HGVS Amino-acid change
ENST00000682266.1:c.2149del ENSP00000507766.1:p.Arg717GlufsTer4
ENST00000682341.1:c.2557del ENSP00000508251.1:p.Arg853GlufsTer4
ENST00000683197.1:c.*63del ENSP00000507641.1:n.*63del
ENST00000683411.1:c.2149del ENSP00000508397.1:p.Arg717GlufsTer4
ENST00000683437.1:c.2149del ENSP00000508408.1:p.Arg717GlufsTer4
ENST00000683613.1:n.3593del
ENST00000684663.1:c.2554del ENSP00000508009.1:p.Arg852GlufsTer4
ENST00000324559.9:c.2599del MANE Select ENSP00000315371.9:p.Arg867GlufsTer4
ENST00000648804.1:n.2934del
ENST00000324559.8:c.2599del ENSP00000315371.8:p.Arg867GlufsTer4
NM_001142649.1:c.2596del NP_001136121.1:p.Arg866GlufsTer4
NM_213599.2:c.2599del , LRG_868t1:c.2599del NP_998764.1:p.Arg867GlufsTer4
XM_005252820.2:c.2557del XP_005252877.2:p.Arg853GlufsTer4
XM_005252821.2:c.2554del XP_005252878.2:p.Arg852GlufsTer4
XM_005252822.3:c.2521del XP_005252879.1:p.Arg841GlufsTer4
XM_005252823.3:c.2518del XP_005252880.1:p.Arg840GlufsTer4
XM_011519949.1:c.2506del XP_011518251.1:p.Arg836GlufsTer4
XM_005252820.3:c.2557del XP_005252877.2:p.Arg853GlufsTer4
XM_005252821.3:c.2554del XP_005252878.2:p.Arg852GlufsTer4
XM_005252822.4:c.2521del XP_005252879.1:p.Arg841GlufsTer4
XM_011519949.2:c.2506del XP_011518251.1:p.Arg836GlufsTer4
NM_001142649.2:c.2596del NP_001136121.1:p.Arg866GlufsTer4
NM_213599.3:c.2599del MANE Select NP_998764.1:p.Arg867GlufsTer4