Canonical Allele Identifier: CA10604583

Gene: ANO5

Linked Data

• ClinVar Variation Id: 283748
• ClinVar RCV Id: RCV001859585
• dbSNP Id: rs886042702
• gnomAD v3: 11-22259547-C-CTGG
• gnomAD v4: 11-22259547-C-CTGG
• MyVariant Identifiers: chr11:g.22281095_22281096insGTG (hg19) ; chr11:g.22259549_22259550insGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259549_22259550insGTG , CM000673.2:g.22259549_22259550insGTG	GRCh38
NC_000011.9:g.22281095_22281096insGTG , CM000673.1:g.22281095_22281096insGTG	GRCh37
NC_000011.8:g.22237671_22237672insGTG	NCBI36
NG_015844.1:g.71374_71375insGTG , LRG_868:g.71374_71375insGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.988_989insGTG	ENSP00000507766.1:p.Ala329_Val330insGly
ENST00000682341.1:c.1396_1397insGTG	ENSP00000508251.1:p.Ala465_Val466insGly
ENST00000683197.1:c.1396_1397insGTG	ENSP00000507641.1:p.Ala465_Val466insGly
ENST00000683411.1:c.988_989insGTG	ENSP00000508397.1:p.Ala329_Val330insGly
ENST00000683437.1:c.988_989insGTG	ENSP00000508408.1:p.Ala329_Val330insGly
ENST00000683613.1:n.2432_2433insGTG
ENST00000684663.1:c.1393_1394insGTG	ENSP00000508009.1:p.Ala464_Val465insGly
ENST00000324559.9:c.1438_1439insGTG MANE Select	ENSP00000315371.9:p.Ala479_Val480insGly
ENST00000648804.1:n.1773_1774insGTG
ENST00000324559.8:c.1438_1439insGTG	ENSP00000315371.8:p.Ala479_Val480insGly
NM_001142649.1:c.1435_1436insGTG	NP_001136121.1:p.Ala478_Val479insGly
NM_213599.2:c.1438_1439insGTG , LRG_868t1:c.1438_1439insGTG	NP_998764.1:p.Ala479_Val480insGly
XM_005252820.2:c.1396_1397insGTG	XP_005252877.2:p.Ala465_Val466insGly
XM_005252821.2:c.1393_1394insGTG	XP_005252878.2:p.Ala464_Val465insGly
XM_005252822.3:c.1360_1361insGTG	XP_005252879.1:p.Ala453_Val454insGly
XM_005252823.3:c.1357_1358insGTG	XP_005252880.1:p.Ala452_Val453insGly
XM_011519949.1:c.1345_1346insGTG	XP_011518251.1:p.Ala448_Val449insGly
XM_005252820.3:c.1396_1397insGTG	XP_005252877.2:p.Ala465_Val466insGly
XM_005252821.3:c.1393_1394insGTG	XP_005252878.2:p.Ala464_Val465insGly
XM_005252822.4:c.1360_1361insGTG	XP_005252879.1:p.Ala453_Val454insGly
XM_011519949.2:c.1345_1346insGTG	XP_011518251.1:p.Ala448_Val449insGly
NM_001142649.2:c.1435_1436insGTG	NP_001136121.1:p.Ala478_Val479insGly
NM_213599.3:c.1438_1439insGTG MANE Select	NP_998764.1:p.Ala479_Val480insGly