Canonical Allele Identifier: CA674655034
Gene: ANO5 HGNC NCBI

Linked Data

dbSNP Id: rs1554934311

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22272931_22272932dup , CM000673.2:g.22272931_22272932dup GRCh38
NC_000011.9:g.22294477_22294478dup , CM000673.1:g.22294477_22294478dup GRCh37
NC_000011.8:g.22251053_22251054dup NCBI36
NG_015844.1:g.84756_84757dup , LRG_868:g.84756_84757dup

Transcript Alleles

HGVS Amino-acid change
ENST00000532043.2:n.194_195dup
ENST00000682266.1:c.1727_1728dup ENSP00000507766.1:p.Ile577AlafsTer2
ENST00000682341.1:c.2135_2136dup ENSP00000508251.1:p.Ile713AlafsTer2
ENST00000683197.1:c.2135_2136dup ENSP00000507641.1:p.Ile713AlafsTer2
ENST00000683411.1:c.1727_1728dup ENSP00000508397.1:p.Ile577AlafsTer2
ENST00000683437.1:c.1727_1728dup ENSP00000508408.1:p.Ile577AlafsTer2
ENST00000683613.1:n.3171_3172dup
ENST00000684663.1:c.2132_2133dup ENSP00000508009.1:p.Ile712AlafsTer2
ENST00000324559.9:c.2177_2178dup MANE Select ENSP00000315371.9:p.Ile727AlafsTer2
ENST00000648804.1:n.2512_2513dup
ENST00000324559.8:c.2177_2178dup ENSP00000315371.8:p.Ile727AlafsTer2
ENST00000532043.1:n.194_195dup
NM_001142649.1:c.2174_2175dup NP_001136121.1:p.Ile726AlafsTer2
NM_213599.2:c.2177_2178dup , LRG_868t1:c.2177_2178dup NP_998764.1:p.Ile727AlafsTer2
XM_005252820.2:c.2135_2136dup XP_005252877.2:p.Ile713AlafsTer2
XM_005252821.2:c.2132_2133dup XP_005252878.2:p.Ile712AlafsTer2
XM_005252822.3:c.2099_2100dup XP_005252879.1:p.Ile701AlafsTer2
XM_005252823.3:c.2096_2097dup XP_005252880.1:p.Ile700AlafsTer2
XM_011519949.1:c.2084_2085dup XP_011518251.1:p.Ile696AlafsTer2
XM_005252820.3:c.2135_2136dup XP_005252877.2:p.Ile713AlafsTer2
XM_005252821.3:c.2132_2133dup XP_005252878.2:p.Ile712AlafsTer2
XM_005252822.4:c.2099_2100dup XP_005252879.1:p.Ile701AlafsTer2
XM_011519949.2:c.2084_2085dup XP_011518251.1:p.Ile696AlafsTer2
NM_001142649.2:c.2174_2175dup NP_001136121.1:p.Ile726AlafsTer2
NM_213599.3:c.2177_2178dup MANE Select NP_998764.1:p.Ile727AlafsTer2