Canonical Allele Identifier: CA201499
Gene: ANO5 HGNC NCBI

Linked Data

ClinVar Variation Id: 195003
dbSNP Id: rs797044667

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22272930dup , CM000673.2:g.22272930dup GRCh38
NC_000011.9:g.22294476dup , CM000673.1:g.22294476dup GRCh37
NC_000011.8:g.22251052dup NCBI36
NG_015844.1:g.84755dup , LRG_868:g.84755dup

Transcript Alleles

HGVS Amino-acid change
ENST00000324559.9:c.2176dup MANE Select ENSP00000315371.9:p.Ser726LysfsTer20
ENST00000648804.1:n.2511dup
ENST00000324559.8:c.2176dup ENSP00000315371.8:p.Ser726LysfsTer20
ENST00000532043.1:n.193dup
NM_001142649.1:c.2173dup NP_001136121.1:p.Ser725LysfsTer20
NM_213599.2:c.2176dup , LRG_868t1:c.2176dup NP_998764.1:p.Ser726LysfsTer20
XM_005252820.2:c.2134dup XP_005252877.2:p.Ser712LysfsTer20
XM_005252821.2:c.2131dup XP_005252878.2:p.Ser711LysfsTer20
XM_005252822.3:c.2098dup XP_005252879.1:p.Ser700LysfsTer20
XM_005252823.3:c.2095dup XP_005252880.1:p.Ser699LysfsTer20
XM_011519949.1:c.2083dup XP_011518251.1:p.Ser695LysfsTer20
XM_005252820.3:c.2134dup XP_005252877.2:p.Ser712LysfsTer20
XM_005252821.3:c.2131dup XP_005252878.2:p.Ser711LysfsTer20
XM_005252822.4:c.2098dup XP_005252879.1:p.Ser700LysfsTer20
XM_011519949.2:c.2083dup XP_011518251.1:p.Ser695LysfsTer20
NM_001142649.2:c.2173dup NP_001136121.1:p.Ser725LysfsTer20
NM_213599.3:c.2176dup MANE Select NP_998764.1:p.Ser726LysfsTer20