Canonical Allele Identifier: CA2612836908

Gene: ANO5

Linked Data

• gnomAD v4: 11-22270323-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22270325dup , CM000673.2:g.22270325dup	GRCh38
NC_000011.9:g.22291871dup , CM000673.1:g.22291871dup	GRCh37
NC_000011.8:g.22248447dup	NCBI36
NG_015844.1:g.82150dup , LRG_868:g.82150dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1462dup	ENSP00000507766.1:p.Trp488LeufsTer12
ENST00000682341.1:c.1870dup	ENSP00000508251.1:p.Trp624LeufsTer12
ENST00000683197.1:c.1870dup	ENSP00000507641.1:p.Trp624LeufsTer12
ENST00000683411.1:c.1462dup	ENSP00000508397.1:p.Trp488LeufsTer12
ENST00000683437.1:c.1462dup	ENSP00000508408.1:p.Trp488LeufsTer12
ENST00000683613.1:n.2906dup
ENST00000684663.1:c.1867dup	ENSP00000508009.1:p.Trp623LeufsTer12
ENST00000324559.9:c.1912dup MANE Select	ENSP00000315371.9:p.Trp638LeufsTer12
ENST00000648804.1:n.2247dup
ENST00000324559.8:c.1912dup	ENSP00000315371.8:p.Trp638LeufsTer12
NM_001142649.1:c.1909dup	NP_001136121.1:p.Trp637LeufsTer12
NM_213599.2:c.1912dup , LRG_868t1:c.1912dup	NP_998764.1:p.Trp638LeufsTer12
XM_005252820.2:c.1870dup	XP_005252877.2:p.Trp624LeufsTer12
XM_005252821.2:c.1867dup	XP_005252878.2:p.Trp623LeufsTer12
XM_005252822.3:c.1834dup	XP_005252879.1:p.Trp612LeufsTer12
XM_005252823.3:c.1831dup	XP_005252880.1:p.Trp611LeufsTer12
XM_011519949.1:c.1819dup	XP_011518251.1:p.Trp607LeufsTer12
XM_005252820.3:c.1870dup	XP_005252877.2:p.Trp624LeufsTer12
XM_005252821.3:c.1867dup	XP_005252878.2:p.Trp623LeufsTer12
XM_005252822.4:c.1834dup	XP_005252879.1:p.Trp612LeufsTer12
XM_011519949.2:c.1819dup	XP_011518251.1:p.Trp607LeufsTer12
NM_001142649.2:c.1909dup	NP_001136121.1:p.Trp637LeufsTer12
NM_213599.3:c.1912dup MANE Select	NP_998764.1:p.Trp638LeufsTer12