Canonical Allele Identifier: CA10605609

Gene: ANO5

Linked Data

• ClinVar Variation Id: 286905
• ClinVar RCV Id: RCV000353797
• dbSNP Id: rs886043515
• MyVariant Identifiers: chr11:g.22291874_22291876del (hg19) ; chr11:g.22270328_22270330del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22270328_22270330del , CM000673.2:g.22270328_22270330del	GRCh38
NC_000011.9:g.22291874_22291876del , CM000673.1:g.22291874_22291876del	GRCh37
NC_000011.8:g.22248450_22248452del	NCBI36
NG_015844.1:g.82153_82155del , LRG_868:g.82153_82155del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1465_1467del	ENSP00000507766.1:p.Trp489del
ENST00000682341.1:c.1873_1875del	ENSP00000508251.1:p.Trp625del
ENST00000683197.1:c.1873_1875del	ENSP00000507641.1:p.Trp625del
ENST00000683411.1:c.1465_1467del	ENSP00000508397.1:p.Trp489del
ENST00000683437.1:c.1465_1467del	ENSP00000508408.1:p.Trp489del
ENST00000683613.1:n.2909_2911del
ENST00000684663.1:c.1870_1872del	ENSP00000508009.1:p.Trp624del
ENST00000324559.9:c.1915_1917del MANE Select	ENSP00000315371.9:p.Trp639del
ENST00000648804.1:n.2250_2252del
ENST00000324559.8:c.1915_1917del	ENSP00000315371.8:p.Trp639del
NM_001142649.1:c.1912_1914del	NP_001136121.1:p.Trp638del
NM_213599.2:c.1915_1917del , LRG_868t1:c.1915_1917del	NP_998764.1:p.Trp639del
XM_005252820.2:c.1873_1875del	XP_005252877.2:p.Trp625del
XM_005252821.2:c.1870_1872del	XP_005252878.2:p.Trp624del
XM_005252822.3:c.1837_1839del	XP_005252879.1:p.Trp613del
XM_005252823.3:c.1834_1836del	XP_005252880.1:p.Trp612del
XM_011519949.1:c.1822_1824del	XP_011518251.1:p.Trp608del
XM_005252820.3:c.1873_1875del	XP_005252877.2:p.Trp625del
XM_005252821.3:c.1870_1872del	XP_005252878.2:p.Trp624del
XM_005252822.4:c.1837_1839del	XP_005252879.1:p.Trp613del
XM_011519949.2:c.1822_1824del	XP_011518251.1:p.Trp608del
NM_001142649.2:c.1912_1914del	NP_001136121.1:p.Trp638del
NM_213599.3:c.1915_1917del MANE Select	NP_998764.1:p.Trp639del