Canonical Allele Identifier: CA115378
Gene: ANO5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2164
dbSNP Id: rs137854521

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22221107dup , CM000673.2:g.22221107dup GRCh38
NC_000011.9:g.22242653dup , CM000673.1:g.22242653dup GRCh37
NC_000011.8:g.22199229dup NCBI36
NG_015844.1:g.32932dup , LRG_868:g.32932dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682266.1:c.-260dup ENSP00000507766.1:n.-260dup
ENST00000682341.1:c.149dup ENSP00000508251.1:p.Asn50LysfsTer15
ENST00000682530.1:c.*123dup ENSP00000506805.1:n.*123dup
ENST00000682684.1:n.570dup
ENST00000683197.1:c.149dup ENSP00000507641.1:p.Asn50LysfsTer15
ENST00000683411.1:c.-260dup ENSP00000508397.1:n.-260dup
ENST00000683437.1:c.-260dup ENSP00000508408.1:n.-260dup
ENST00000683613.1:n.1185dup
ENST00000683834.1:n.391dup
ENST00000683897.1:n.435dup
ENST00000684365.1:n.560dup
ENST00000684663.1:c.146dup ENSP00000508009.1:p.Asn49LysfsTer15
ENST00000324559.9:c.191dup MANE Select ENSP00000315371.9:p.Asn64LysfsTer15
ENST00000648804.1:n.756dup
ENST00000324559.8:c.191dup ENSP00000315371.8:p.Asn64LysfsTer15
NM_001142649.1:c.188dup NP_001136121.1:p.Asn63LysfsTer15
NM_213599.2:c.191dup , LRG_868t1:c.191dup NP_998764.1:p.Asn64LysfsTer15
XM_005252820.2:c.149dup XP_005252877.2:p.Asn50LysfsTer15
XM_005252821.2:c.146dup XP_005252878.2:p.Asn49LysfsTer15
XM_005252822.3:c.113dup XP_005252879.1:p.Asn38LysfsTer15
XM_005252823.3:c.110dup XP_005252880.1:p.Asn37LysfsTer15
XM_011519949.1:c.98dup XP_011518251.1:p.Asn33LysfsTer15
XM_005252820.3:c.149dup XP_005252877.2:p.Asn50LysfsTer15
XM_005252821.3:c.146dup XP_005252878.2:p.Asn49LysfsTer15
XM_005252822.4:c.113dup XP_005252879.1:p.Asn38LysfsTer15
XM_011519949.2:c.98dup XP_011518251.1:p.Asn33LysfsTer15
NM_001142649.2:c.188dup NP_001136121.1:p.Asn63LysfsTer15
NM_213599.3:c.191dup MANE Select NP_998764.1:p.Asn64LysfsTer15