Canonical Allele Identifier: CA115378

Gene: ANO5

Linked Data

• ClinVar Variation Id: 2164
• ClinVar RCV Id: RCV000002247 ; RCV000002248 ; RCV000082844 ; RCV000414931 ; RCV000627781 ; RCV000627021 ; RCV000778317 ; RCV001251667 ; RCV001196017 ; RCV002307353 ; RCV002476911 ; RCV003332991
• dbSNP Id: rs137854521
• ExAC: 11:22242646 C / CA
• gnomAD v2: 11-22242646-C-CA
• gnomAD v3: 11-22221100-C-CA
• gnomAD v4: 11-22221100-C-CA
• COSMIC: COSM6206540
• MyVariant Identifiers: chr11:g.22242653dup (hg19) ; chr11:g.22242653dupA (hg19) ; chr11:g.22242646_22242647insA (hg19) ; chr11:g.22221107dupA (hg38) ; chr11:g.22221100_22221101insA (hg38)
• PubMed: PMID:9673985 ; PMID:20096397 ; PMID:21186264 ; PMID:21820307 ; PMID:22336395 ; PMID:22402862 ; PMID:22499103 ; PMID:22980763 ; PMID:23041008 ; PMID:23606453 ; PMID:23607914 ; PMID:23757202 ; PMID:24022920 ; PMID:24232312 ; PMID:24843231 ; PMID:25891276 ; PMID:27708273

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22221107dup , CM000673.2:g.22221107dup	GRCh38
NC_000011.9:g.22242653dup , CM000673.1:g.22242653dup	GRCh37
NC_000011.8:g.22199229dup	NCBI36
NG_015844.1:g.32932dup , LRG_868:g.32932dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.-260dup	ENSP00000507766.1:n.-260dup
ENST00000682341.1:c.149dup	ENSP00000508251.1:p.Asn50LysfsTer15
ENST00000682530.1:c.*123dup	ENSP00000506805.1:n.*123dup
ENST00000682684.1:n.570dup
ENST00000683197.1:c.149dup	ENSP00000507641.1:p.Asn50LysfsTer15
ENST00000683411.1:c.-260dup	ENSP00000508397.1:n.-260dup
ENST00000683437.1:c.-260dup	ENSP00000508408.1:n.-260dup
ENST00000683613.1:n.1185dup
ENST00000683834.1:n.391dup
ENST00000683897.1:n.435dup
ENST00000684365.1:n.560dup
ENST00000684663.1:c.146dup	ENSP00000508009.1:p.Asn49LysfsTer15
ENST00000324559.9:c.191dup MANE Select	ENSP00000315371.9:p.Asn64LysfsTer15
ENST00000648804.1:n.756dup
ENST00000324559.8:c.191dup	ENSP00000315371.8:p.Asn64LysfsTer15
NM_001142649.1:c.188dup	NP_001136121.1:p.Asn63LysfsTer15
NM_213599.2:c.191dup , LRG_868t1:c.191dup	NP_998764.1:p.Asn64LysfsTer15
XM_005252820.2:c.149dup	XP_005252877.2:p.Asn50LysfsTer15
XM_005252821.2:c.146dup	XP_005252878.2:p.Asn49LysfsTer15
XM_005252822.3:c.113dup	XP_005252879.1:p.Asn38LysfsTer15
XM_005252823.3:c.110dup	XP_005252880.1:p.Asn37LysfsTer15
XM_011519949.1:c.98dup	XP_011518251.1:p.Asn33LysfsTer15
XM_005252820.3:c.149dup	XP_005252877.2:p.Asn50LysfsTer15
XM_005252821.3:c.146dup	XP_005252878.2:p.Asn49LysfsTer15
XM_005252822.4:c.113dup	XP_005252879.1:p.Asn38LysfsTer15
XM_011519949.2:c.98dup	XP_011518251.1:p.Asn33LysfsTer15
NM_001142649.2:c.188dup	NP_001136121.1:p.Asn63LysfsTer15
NM_213599.3:c.191dup MANE Select	NP_998764.1:p.Asn64LysfsTer15