Canonical Allele Identifier: CA2530752510

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22236296_22236297insTGTCAG , CM000673.2:g.22236296_22236297insTGTCAG	GRCh38
NC_000011.9:g.22257842_22257843insTGTCAG , CM000673.1:g.22257842_22257843insTGTCAG	GRCh37
NC_000011.8:g.22214418_22214419insTGTCAG	NCBI36
NG_015844.1:g.48121_48122insTGTCAG , LRG_868:g.48121_48122insTGTCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.312+20_312+21insTGTCAG	ENSP00000507766.1:n.312+20_312+21insTGTCAG
ENST00000682341.1:c.720+20_720+21insTGTCAG	ENSP00000508251.1:n.720+20_720+21insTGTCAG
ENST00000682530.1:c.*694+20_*694+21insTGTCAG	ENSP00000506805.1:n.*694+20_*694+21insTGTCAG
ENST00000682684.1:n.1141+20_1141+21insTGTCAG
ENST00000683197.1:c.720+20_720+21insTGTCAG	ENSP00000507641.1:n.720+20_720+21insTGTCAG
ENST00000683411.1:c.312+20_312+21insTGTCAG	ENSP00000508397.1:n.312+20_312+21insTGTCAG
ENST00000683437.1:c.312+20_312+21insTGTCAG	ENSP00000508408.1:n.312+20_312+21insTGTCAG
ENST00000683613.1:n.1756+20_1756+21insTGTCAG
ENST00000683834.1:n.962+20_962+21insTGTCAG
ENST00000684663.1:c.717+20_717+21insTGTCAG	ENSP00000508009.1:n.717+20_717+21insTGTCAG
ENST00000324559.9:c.762+20_762+21insTGTCAG MANE Select	ENSP00000315371.9:n.762+20_762+21insTGTCAG
ENST00000648804.1:n.1213+8710_1213+8711insTGTCAG
ENST00000324559.8:c.762+20_762+21insTGTCAG	ENSP00000315371.8:n.762+20_762+21insTGTCAG
NM_001142649.1:c.759+20_759+21insTGTCAG	NP_001136121.1:n.759+20_759+21insTGTCAG
NM_213599.2:c.762+20_762+21insTGTCAG , LRG_868t1:c.762+20_762+21insTGTCAG	NP_998764.1:n.762+20_762+21insTGTCAG
XM_005252820.2:c.720+20_720+21insTGTCAG	XP_005252877.2:n.720+20_720+21insTGTCAG
XM_005252821.2:c.717+20_717+21insTGTCAG	XP_005252878.2:n.717+20_717+21insTGTCAG
XM_005252822.3:c.684+20_684+21insTGTCAG	XP_005252879.1:n.684+20_684+21insTGTCAG
XM_005252823.3:c.681+20_681+21insTGTCAG	XP_005252880.1:n.681+20_681+21insTGTCAG
XM_011519949.1:c.669+20_669+21insTGTCAG	XP_011518251.1:n.669+20_669+21insTGTCAG
XM_005252820.3:c.720+20_720+21insTGTCAG	XP_005252877.2:n.720+20_720+21insTGTCAG
XM_005252821.3:c.717+20_717+21insTGTCAG	XP_005252878.2:n.717+20_717+21insTGTCAG
XM_005252822.4:c.684+20_684+21insTGTCAG	XP_005252879.1:n.684+20_684+21insTGTCAG
XM_011519949.2:c.669+20_669+21insTGTCAG	XP_011518251.1:n.669+20_669+21insTGTCAG
NM_001142649.2:c.759+20_759+21insTGTCAG	NP_001136121.1:n.759+20_759+21insTGTCAG
NM_213599.3:c.762+20_762+21insTGTCAG MANE Select	NP_998764.1:n.762+20_762+21insTGTCAG