Canonical Allele Identifier: CA16043458

Gene: ANO5

Linked Data

• ClinVar Variation Id: 374043
• ClinVar RCV Id: RCV000414813 ; RCV001196262
• dbSNP Id: rs1057518855

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22270444dup , CM000673.2:g.22270444dup	GRCh38
NC_000011.9:g.22291990dup , CM000673.1:g.22291990dup	GRCh37
NC_000011.8:g.22248566dup	NCBI36
NG_015844.1:g.82269dup , LRG_868:g.82269dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532043.2:n.46+2dup
ENST00000682266.1:c.1579+2dup	ENSP00000507766.1:n.1579+2dup
ENST00000682341.1:c.1987+2dup	ENSP00000508251.1:n.1987+2dup
ENST00000683197.1:c.1987+2dup	ENSP00000507641.1:n.1987+2dup
ENST00000683411.1:c.1579+2dup	ENSP00000508397.1:n.1579+2dup
ENST00000683437.1:c.1579+2dup	ENSP00000508408.1:n.1579+2dup
ENST00000683613.1:n.3023+2dup
ENST00000684663.1:c.1984+2dup	ENSP00000508009.1:n.1984+2dup
ENST00000324559.9:c.2029+2dup MANE Select	ENSP00000315371.9:n.2029+2dup
ENST00000648804.1:n.2364+2dup
ENST00000324559.8:c.2029+2dup	ENSP00000315371.8:n.2029+2dup
ENST00000532043.1:n.46+2dup
NM_001142649.1:c.2026+2dup	NP_001136121.1:n.2026+2dup
NM_213599.2:c.2029+2dup , LRG_868t1:c.2029+2dup	NP_998764.1:n.2029+2dup
XM_005252820.2:c.1987+2dup	XP_005252877.2:n.1987+2dup
XM_005252821.2:c.1984+2dup	XP_005252878.2:n.1984+2dup
XM_005252822.3:c.1951+2dup	XP_005252879.1:n.1951+2dup
XM_005252823.3:c.1948+2dup	XP_005252880.1:n.1948+2dup
XM_011519949.1:c.1936+2dup	XP_011518251.1:n.1936+2dup
XM_005252820.3:c.1987+2dup	XP_005252877.2:n.1987+2dup
XM_005252821.3:c.1984+2dup	XP_005252878.2:n.1984+2dup
XM_005252822.4:c.1951+2dup	XP_005252879.1:n.1951+2dup
XM_011519949.2:c.1936+2dup	XP_011518251.1:n.1936+2dup
NM_001142649.2:c.2026+2dup	NP_001136121.1:n.2026+2dup
NM_213599.3:c.2029+2dup MANE Select	NP_998764.1:n.2029+2dup