Canonical Allele Identifier: CA5923470

Gene: ANO5

Linked Data

• dbSNP Id: rs773208515
• ExAC: 11:22294483 G / GT
• gnomAD v4: 11-22272937-G-GT
• MyVariant Identifiers: chr11:g.22294483_22294484insT (hg19) ; chr11:g.22272937_22272938insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272938dup , CM000673.2:g.22272938dup	GRCh38
NC_000011.9:g.22294484dup , CM000673.1:g.22294484dup	GRCh37
NC_000011.8:g.22251060dup	NCBI36
NG_015844.1:g.84763dup , LRG_868:g.84763dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000532043.2:n.201dup
ENST00000682266.1:c.1734dup	ENSP00000507766.1:p.Val579CysfsTer17
ENST00000682341.1:c.2142dup	ENSP00000508251.1:p.Val715CysfsTer17
ENST00000683197.1:c.2142dup	ENSP00000507641.1:p.Val715CysfsTer17
ENST00000683411.1:c.1734dup	ENSP00000508397.1:p.Val579CysfsTer17
ENST00000683437.1:c.1734dup	ENSP00000508408.1:p.Val579CysfsTer17
ENST00000683613.1:n.3178dup
ENST00000684663.1:c.2139dup	ENSP00000508009.1:p.Val714CysfsTer17
ENST00000324559.9:c.2184dup MANE Select	ENSP00000315371.9:p.Val729CysfsTer17
ENST00000648804.1:n.2519dup
ENST00000324559.8:c.2184dup	ENSP00000315371.8:p.Val729CysfsTer17
ENST00000532043.1:n.201dup
NM_001142649.1:c.2181dup	NP_001136121.1:p.Val728CysfsTer17
NM_213599.2:c.2184dup , LRG_868t1:c.2184dup	NP_998764.1:p.Val729CysfsTer17
XM_005252820.2:c.2142dup	XP_005252877.2:p.Val715CysfsTer17
XM_005252821.2:c.2139dup	XP_005252878.2:p.Val714CysfsTer17
XM_005252822.3:c.2106dup	XP_005252879.1:p.Val703CysfsTer17
XM_005252823.3:c.2103dup	XP_005252880.1:p.Val702CysfsTer17
XM_011519949.1:c.2091dup	XP_011518251.1:p.Val698CysfsTer17
XM_005252820.3:c.2142dup	XP_005252877.2:p.Val715CysfsTer17
XM_005252821.3:c.2139dup	XP_005252878.2:p.Val714CysfsTer17
XM_005252822.4:c.2106dup	XP_005252879.1:p.Val703CysfsTer17
XM_011519949.2:c.2091dup	XP_011518251.1:p.Val698CysfsTer17
NM_001142649.2:c.2181dup	NP_001136121.1:p.Val728CysfsTer17
NM_213599.3:c.2184dup MANE Select	NP_998764.1:p.Val729CysfsTer17