Canonical Allele Identifier: CA2612837721

Gene: ANO5

Linked Data

• gnomAD v4: 11-22259633-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259635dup , CM000673.2:g.22259635dup	GRCh38
NC_000011.9:g.22281181dup , CM000673.1:g.22281181dup	GRCh37
NC_000011.8:g.22237757dup	NCBI36
NG_015844.1:g.71460dup , LRG_868:g.71460dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.1074dup	ENSP00000507766.1:p.Thr359TyrfsTer26
ENST00000682341.1:c.1482dup	ENSP00000508251.1:p.Thr495TyrfsTer26
ENST00000683197.1:c.1482dup	ENSP00000507641.1:p.Thr495TyrfsTer26
ENST00000683411.1:c.1074dup	ENSP00000508397.1:p.Thr359TyrfsTer26
ENST00000683437.1:c.1074dup	ENSP00000508408.1:p.Thr359TyrfsTer26
ENST00000683613.1:n.2518dup
ENST00000684663.1:c.1479dup	ENSP00000508009.1:p.Thr494TyrfsTer26
ENST00000324559.9:c.1524dup MANE Select	ENSP00000315371.9:p.Thr509TyrfsTer26
ENST00000648804.1:n.1859dup
ENST00000324559.8:c.1524dup	ENSP00000315371.8:p.Thr509TyrfsTer26
NM_001142649.1:c.1521dup	NP_001136121.1:p.Thr508TyrfsTer26
NM_213599.2:c.1524dup , LRG_868t1:c.1524dup	NP_998764.1:p.Thr509TyrfsTer26
XM_005252820.2:c.1482dup	XP_005252877.2:p.Thr495TyrfsTer26
XM_005252821.2:c.1479dup	XP_005252878.2:p.Thr494TyrfsTer26
XM_005252822.3:c.1446dup	XP_005252879.1:p.Thr483TyrfsTer26
XM_005252823.3:c.1443dup	XP_005252880.1:p.Thr482TyrfsTer26
XM_011519949.1:c.1431dup	XP_011518251.1:p.Thr478TyrfsTer26
XM_005252820.3:c.1482dup	XP_005252877.2:p.Thr495TyrfsTer26
XM_005252821.3:c.1479dup	XP_005252878.2:p.Thr494TyrfsTer26
XM_005252822.4:c.1446dup	XP_005252879.1:p.Thr483TyrfsTer26
XM_011519949.2:c.1431dup	XP_011518251.1:p.Thr478TyrfsTer26
NM_001142649.2:c.1521dup	NP_001136121.1:p.Thr508TyrfsTer26
NM_213599.3:c.1524dup MANE Select	NP_998764.1:p.Thr509TyrfsTer26