Canonical Allele Identifier: CA2545866479

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22273220_22273221insTTCTATATTGGTTAGCG , CM000673.2:g.22273220_22273221insTTCTATATTGGTTAGCG	GRCh38
NC_000011.9:g.22294766_22294767insTTCTATATTGGTTAGCG , CM000673.1:g.22294766_22294767insTTCTATATTGGTTAGCG	GRCh37
NC_000011.8:g.22251342_22251343insTTCTATATTGGTTAGCG	NCBI36
NG_015844.1:g.85045_85046insTTCTATATTGGTTAGCG , LRG_868:g.85045_85046insTTCTATATTGGTTAGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532043.2:n.252+231_252+232insTTCTATATTGGTTAGCG
ENST00000682266.1:c.1785+231_1785+232insTTCTATATTGGTTAGCG	ENSP00000507766.1:n.1785+231_1785+232insTTCTATATTGGTTAGCG
ENST00000682341.1:c.2193+231_2193+232insTTCTATATTGGTTAGCG	ENSP00000508251.1:n.2193+231_2193+232insTTCTATATTGGTTAGCG
ENST00000683197.1:c.2193+231_2193+232insTTCTATATTGGTTAGCG	ENSP00000507641.1:n.2193+231_2193+232insTTCTATATTGGTTAGCG
ENST00000683411.1:c.1785+231_1785+232insTTCTATATTGGTTAGCG	ENSP00000508397.1:n.1785+231_1785+232insTTCTATATTGGTTAGCG
ENST00000683437.1:c.1785+231_1785+232insTTCTATATTGGTTAGCG	ENSP00000508408.1:n.1785+231_1785+232insTTCTATATTGGTTAGCG
ENST00000683613.1:n.3229+231_3229+232insTTCTATATTGGTTAGCG
ENST00000684663.1:c.2190+231_2190+232insTTCTATATTGGTTAGCG	ENSP00000508009.1:n.2190+231_2190+232insTTCTATATTGGTTAGCG
ENST00000324559.9:c.2235+231_2235+232insTTCTATATTGGTTAGCG MANE Select	ENSP00000315371.9:n.2235+231_2235+232insTTCTATATTGGTTAGCG
ENST00000648804.1:n.2570+231_2570+232insTTCTATATTGGTTAGCG
ENST00000324559.8:c.2235+231_2235+232insTTCTATATTGGTTAGCG	ENSP00000315371.8:n.2235+231_2235+232insTTCTATATTGGTTAGCG
ENST00000532043.1:n.252+231_252+232insTTCTATATTGGTTAGCG
NM_001142649.1:c.2232+231_2232+232insTTCTATATTGGTTAGCG	NP_001136121.1:n.2232+231_2232+232insTTCTATATTGGTTAGCG
NM_213599.2:c.2235+231_2235+232insTTCTATATTGGTTAGCG , LRG_868t1:c.2235+231_2235+232insTTCTATATTGGTTAGCG	NP_998764.1:n.2235+231_2235+232insTTCTATATTGGTTAGCG
XM_005252820.2:c.2193+231_2193+232insTTCTATATTGGTTAGCG	XP_005252877.2:n.2193+231_2193+232insTTCTATATTGGTTAGCG
XM_005252821.2:c.2190+231_2190+232insTTCTATATTGGTTAGCG	XP_005252878.2:n.2190+231_2190+232insTTCTATATTGGTTAGCG
XM_005252822.3:c.2157+231_2157+232insTTCTATATTGGTTAGCG	XP_005252879.1:n.2157+231_2157+232insTTCTATATTGGTTAGCG
XM_005252823.3:c.2154+231_2154+232insTTCTATATTGGTTAGCG	XP_005252880.1:n.2154+231_2154+232insTTCTATATTGGTTAGCG
XM_011519949.1:c.2142+231_2142+232insTTCTATATTGGTTAGCG	XP_011518251.1:n.2142+231_2142+232insTTCTATATTGGTTAGCG
XM_005252820.3:c.2193+231_2193+232insTTCTATATTGGTTAGCG	XP_005252877.2:n.2193+231_2193+232insTTCTATATTGGTTAGCG
XM_005252821.3:c.2190+231_2190+232insTTCTATATTGGTTAGCG	XP_005252878.2:n.2190+231_2190+232insTTCTATATTGGTTAGCG
XM_005252822.4:c.2157+231_2157+232insTTCTATATTGGTTAGCG	XP_005252879.1:n.2157+231_2157+232insTTCTATATTGGTTAGCG
XM_011519949.2:c.2142+231_2142+232insTTCTATATTGGTTAGCG	XP_011518251.1:n.2142+231_2142+232insTTCTATATTGGTTAGCG
NM_001142649.2:c.2232+231_2232+232insTTCTATATTGGTTAGCG	NP_001136121.1:n.2232+231_2232+232insTTCTATATTGGTTAGCG
NM_213599.3:c.2235+231_2235+232insTTCTATATTGGTTAGCG MANE Select	NP_998764.1:n.2235+231_2235+232insTTCTATATTGGTTAGCG