Canonical Allele Identifier: CA16619301
Gene: ANO5 HGNC NCBI

Linked Data

ClinVar Variation Id: 418672
ClinVar RCV Id: RCV000484440 RCV000812498
dbSNP Id: rs1064793358
MyVariant Identifiers: chr11:g.22247534del (hg19) chr11:g.22225988del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22225988del , CM000673.2:g.22225988del GRCh38
NC_000011.9:g.22247534del , CM000673.1:g.22247534del GRCh37
NC_000011.8:g.22204110del NCBI36
NG_015844.1:g.37813del , LRG_868:g.37813del

Transcript Alleles

HGVS Amino-acid change
ENST00000682266.1:c.-152del ENSP00000507766.1:n.-152del
ENST00000682341.1:c.257del ENSP00000508251.1:p.Arg86LysfsTer18
ENST00000682530.1:c.*231del ENSP00000506805.1:n.*231del
ENST00000682684.1:n.678del
ENST00000683197.1:c.257del ENSP00000507641.1:p.Arg86LysfsTer18
ENST00000683411.1:c.-152del ENSP00000508397.1:n.-152del
ENST00000683437.1:c.-152del ENSP00000508408.1:n.-152del
ENST00000683613.1:n.1293del
ENST00000683834.1:n.499del
ENST00000684663.1:c.254del ENSP00000508009.1:p.Arg85LysfsTer18
ENST00000324559.9:c.299del MANE Select ENSP00000315371.9:p.Arg100LysfsTer18
ENST00000648804.1:n.864del
ENST00000324559.8:c.299del ENSP00000315371.8:p.Arg100LysfsTer18
NM_001142649.1:c.296del NP_001136121.1:p.Arg99LysfsTer18
NM_213599.2:c.299del , LRG_868t1:c.299del NP_998764.1:p.Arg100LysfsTer18
XM_005252820.2:c.257del XP_005252877.2:p.Arg86LysfsTer18
XM_005252821.2:c.254del XP_005252878.2:p.Arg85LysfsTer18
XM_005252822.3:c.221del XP_005252879.1:p.Arg74LysfsTer18
XM_005252823.3:c.218del XP_005252880.1:p.Arg73LysfsTer18
XM_011519949.1:c.206del XP_011518251.1:p.Arg69LysfsTer18
XM_005252820.3:c.257del XP_005252877.2:p.Arg86LysfsTer18
XM_005252821.3:c.254del XP_005252878.2:p.Arg85LysfsTer18
XM_005252822.4:c.221del XP_005252879.1:p.Arg74LysfsTer18
XM_011519949.2:c.206del XP_011518251.1:p.Arg69LysfsTer18
NM_001142649.2:c.296del NP_001136121.1:p.Arg99LysfsTer18
NM_213599.3:c.299del MANE Select NP_998764.1:p.Arg100LysfsTer18
Search 100 bp 5'
Search 100 bp 3'