Canonical Allele Identifier: CA200776
Gene: ANO5 HGNC NCBI

Linked Data

ClinVar Variation Id: 96688
dbSNP Id: rs398124626

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22250347dup , CM000673.2:g.22250347dup GRCh38
NC_000011.9:g.22271893dup , CM000673.1:g.22271893dup GRCh37
NC_000011.8:g.22228469dup NCBI36
NG_015844.1:g.62172dup , LRG_868:g.62172dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682089.1:n.309dup
ENST00000682266.1:c.539dup ENSP00000507766.1:p.Leu180PhefsTer6
ENST00000682341.1:c.947dup ENSP00000508251.1:p.Leu316PhefsTer6
ENST00000682530.1:c.*921dup ENSP00000506805.1:n.*921dup
ENST00000683197.1:c.947dup ENSP00000507641.1:p.Leu316PhefsTer6
ENST00000683411.1:c.539dup ENSP00000508397.1:p.Leu180PhefsTer6
ENST00000683437.1:c.539dup ENSP00000508408.1:p.Leu180PhefsTer6
ENST00000683613.1:n.1983dup
ENST00000683834.1:n.1189dup
ENST00000684663.1:c.944dup ENSP00000508009.1:p.Leu315PhefsTer6
ENST00000324559.9:c.989dup MANE Select ENSP00000315371.9:p.Leu330PhefsTer6
ENST00000648804.1:n.1324dup
ENST00000324559.8:c.989dup ENSP00000315371.8:p.Leu330PhefsTer6
NM_001142649.1:c.986dup NP_001136121.1:p.Leu329PhefsTer6
NM_213599.2:c.989dup , LRG_868t1:c.989dup NP_998764.1:p.Leu330PhefsTer6
XM_005252820.2:c.947dup XP_005252877.2:p.Leu316PhefsTer6
XM_005252821.2:c.944dup XP_005252878.2:p.Leu315PhefsTer6
XM_005252822.3:c.911dup XP_005252879.1:p.Leu304PhefsTer6
XM_005252823.3:c.908dup XP_005252880.1:p.Leu303PhefsTer6
XM_011519949.1:c.896dup XP_011518251.1:p.Leu299PhefsTer6
XM_005252820.3:c.947dup XP_005252877.2:p.Leu316PhefsTer6
XM_005252821.3:c.944dup XP_005252878.2:p.Leu315PhefsTer6
XM_005252822.4:c.911dup XP_005252879.1:p.Leu304PhefsTer6
XM_011519949.2:c.896dup XP_011518251.1:p.Leu299PhefsTer6
NM_001142649.2:c.986dup NP_001136121.1:p.Leu329PhefsTer6
NM_213599.3:c.989dup MANE Select NP_998764.1:p.Leu330PhefsTer6