Canonical Allele Identifier: CA201242
Gene: ANO5 HGNC NCBI

Linked Data

ClinVar Variation Id: 194577
ClinVar RCV Id: RCV000174967 RCV000706748 RCV000789023 RCV002464963
dbSNP Id: rs794727158
gnomAD v4: 11-22259629-CT-C
MyVariant Identifiers: chr11:g.22281177del (hg19) chr11:g.22259631del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22259631del , CM000673.2:g.22259631del GRCh38
NC_000011.9:g.22281177del , CM000673.1:g.22281177del GRCh37
NC_000011.8:g.22237753del NCBI36
NG_015844.1:g.71456del , LRG_868:g.71456del

Transcript Alleles

HGVS Amino-acid change
ENST00000682266.1:c.1070del ENSP00000507766.1:p.Phe357SerfsTer6
ENST00000682341.1:c.1478del ENSP00000508251.1:p.Phe493SerfsTer6
ENST00000683197.1:c.1478del ENSP00000507641.1:p.Phe493SerfsTer6
ENST00000683411.1:c.1070del ENSP00000508397.1:p.Phe357SerfsTer6
ENST00000683437.1:c.1070del ENSP00000508408.1:p.Phe357SerfsTer6
ENST00000683613.1:n.2514del
ENST00000684663.1:c.1475del ENSP00000508009.1:p.Phe492SerfsTer6
ENST00000324559.9:c.1520del MANE Select ENSP00000315371.9:p.Phe507SerfsTer6
ENST00000648804.1:n.1855del
ENST00000324559.8:c.1520del ENSP00000315371.8:p.Phe507SerfsTer6
NM_001142649.1:c.1517del NP_001136121.1:p.Phe506SerfsTer6
NM_213599.2:c.1520del , LRG_868t1:c.1520del NP_998764.1:p.Phe507SerfsTer6
XM_005252820.2:c.1478del XP_005252877.2:p.Phe493SerfsTer6
XM_005252821.2:c.1475del XP_005252878.2:p.Phe492SerfsTer6
XM_005252822.3:c.1442del XP_005252879.1:p.Phe481SerfsTer6
XM_005252823.3:c.1439del XP_005252880.1:p.Phe480SerfsTer6
XM_011519949.1:c.1427del XP_011518251.1:p.Phe476SerfsTer6
XM_005252820.3:c.1478del XP_005252877.2:p.Phe493SerfsTer6
XM_005252821.3:c.1475del XP_005252878.2:p.Phe492SerfsTer6
XM_005252822.4:c.1442del XP_005252879.1:p.Phe481SerfsTer6
XM_011519949.2:c.1427del XP_011518251.1:p.Phe476SerfsTer6
NM_001142649.2:c.1517del NP_001136121.1:p.Phe506SerfsTer6
NM_213599.3:c.1520del MANE Select NP_998764.1:p.Phe507SerfsTer6
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