Canonical Allele Identifier: CA674655011

Gene: ANO5

Linked Data

• dbSNP Id: rs1406707186
• gnomAD v4: 11-22272926-T-TCA
• MyVariant Identifiers: chr11:g.22294472_22294473insCA (hg19) ; chr11:g.22272926_22272927insCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272927_22272928dup , CM000673.2:g.22272927_22272928dup	GRCh38
NC_000011.9:g.22294473_22294474dup , CM000673.1:g.22294473_22294474dup	GRCh37
NC_000011.8:g.22251049_22251050dup	NCBI36
NG_015844.1:g.84752_84753dup , LRG_868:g.84752_84753dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000532043.2:n.190_191dup
ENST00000682266.1:c.1723_1724dup	ENSP00000507766.1:p.Ser576IlefsTer3
ENST00000682341.1:c.2131_2132dup	ENSP00000508251.1:p.Ser712IlefsTer3
ENST00000683197.1:c.2131_2132dup	ENSP00000507641.1:p.Ser712IlefsTer3
ENST00000683411.1:c.1723_1724dup	ENSP00000508397.1:p.Ser576IlefsTer3
ENST00000683437.1:c.1723_1724dup	ENSP00000508408.1:p.Ser576IlefsTer3
ENST00000683613.1:n.3167_3168dup
ENST00000684663.1:c.2128_2129dup	ENSP00000508009.1:p.Ser711IlefsTer3
ENST00000324559.9:c.2173_2174dup MANE Select	ENSP00000315371.9:p.Ser726IlefsTer3
ENST00000648804.1:n.2508_2509dup
ENST00000324559.8:c.2173_2174dup	ENSP00000315371.8:p.Ser726IlefsTer3
ENST00000532043.1:n.190_191dup
NM_001142649.1:c.2170_2171dup	NP_001136121.1:p.Ser725IlefsTer3
NM_213599.2:c.2173_2174dup , LRG_868t1:c.2173_2174dup	NP_998764.1:p.Ser726IlefsTer3
XM_005252820.2:c.2131_2132dup	XP_005252877.2:p.Ser712IlefsTer3
XM_005252821.2:c.2128_2129dup	XP_005252878.2:p.Ser711IlefsTer3
XM_005252822.3:c.2095_2096dup	XP_005252879.1:p.Ser700IlefsTer3
XM_005252823.3:c.2092_2093dup	XP_005252880.1:p.Ser699IlefsTer3
XM_011519949.1:c.2080_2081dup	XP_011518251.1:p.Ser695IlefsTer3
XM_005252820.3:c.2131_2132dup	XP_005252877.2:p.Ser712IlefsTer3
XM_005252821.3:c.2128_2129dup	XP_005252878.2:p.Ser711IlefsTer3
XM_005252822.4:c.2095_2096dup	XP_005252879.1:p.Ser700IlefsTer3
XM_011519949.2:c.2080_2081dup	XP_011518251.1:p.Ser695IlefsTer3
NM_001142649.2:c.2170_2171dup	NP_001136121.1:p.Ser725IlefsTer3
NM_213599.3:c.2173_2174dup MANE Select	NP_998764.1:p.Ser726IlefsTer3