Canonical Allele Identifier: CA2695201106
Gene: ANO5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2635107
ClinVar RCV Id: RCV003402763

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22259556_22259561dup , CM000673.2:g.22259556_22259561dup GRCh38
NC_000011.9:g.22281102_22281107dup , CM000673.1:g.22281102_22281107dup GRCh37
NC_000011.8:g.22237678_22237683dup NCBI36
NG_015844.1:g.71381_71386dup , LRG_868:g.71381_71386dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682266.1:c.995_1000dup ENSP00000507766.1:p.Tyr333_Arg334insLeuTy...
ENST00000682341.1:c.1403_1408dup ENSP00000508251.1:p.Tyr469_Arg470insLeuTy...
ENST00000683197.1:c.1403_1408dup ENSP00000507641.1:p.Tyr469_Arg470insLeuTy...
ENST00000683411.1:c.995_1000dup ENSP00000508397.1:p.Tyr333_Arg334insLeuTy...
ENST00000683437.1:c.995_1000dup ENSP00000508408.1:p.Tyr333_Arg334insLeuTy...
ENST00000683613.1:n.2439_2444dup
ENST00000684663.1:c.1400_1405dup ENSP00000508009.1:p.Tyr468_Arg469insLeuTy...
ENST00000324559.9:c.1445_1450dup MANE Select ENSP00000315371.9:p.Tyr483_Arg484insLeuTy...
ENST00000648804.1:n.1780_1785dup
ENST00000324559.8:c.1445_1450dup ENSP00000315371.8:p.Tyr483_Arg484insLeuTy...
NM_001142649.1:c.1442_1447dup NP_001136121.1:p.Tyr482_Arg483insLeuTyr
NM_213599.2:c.1445_1450dup , LRG_868t1:c.1445_1450dup NP_998764.1:p.Tyr483_Arg484insLeuTyr
XM_005252820.2:c.1403_1408dup XP_005252877.2:p.Tyr469_Arg470insLeuTyr
XM_005252821.2:c.1400_1405dup XP_005252878.2:p.Tyr468_Arg469insLeuTyr
XM_005252822.3:c.1367_1372dup XP_005252879.1:p.Tyr457_Arg458insLeuTyr
XM_005252823.3:c.1364_1369dup XP_005252880.1:p.Tyr456_Arg457insLeuTyr
XM_011519949.1:c.1352_1357dup XP_011518251.1:p.Tyr452_Arg453insLeuTyr
XM_005252820.3:c.1403_1408dup XP_005252877.2:p.Tyr469_Arg470insLeuTyr
XM_005252821.3:c.1400_1405dup XP_005252878.2:p.Tyr468_Arg469insLeuTyr
XM_005252822.4:c.1367_1372dup XP_005252879.1:p.Tyr457_Arg458insLeuTyr
XM_011519949.2:c.1352_1357dup XP_011518251.1:p.Tyr452_Arg453insLeuTyr
NM_001142649.2:c.1442_1447dup NP_001136121.1:p.Tyr482_Arg483insLeuTyr
NM_213599.3:c.1445_1450dup MANE Select NP_998764.1:p.Tyr483_Arg484insLeuTyr