Canonical Allele Identifier: CA5923070

Gene: ANO5

Linked Data

• dbSNP Id: rs753343044
• ExAC: 11:22271785 AT / A
• gnomAD v2: 11-22271785-AT-A
• gnomAD v4: 11-22250239-AT-A
• MyVariant Identifiers: chr11:g.22271786del (hg19) ; chr11:g.22250240del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250241del , CM000673.2:g.22250241del	GRCh38
NC_000011.9:g.22271787del , CM000673.1:g.22271787del	GRCh37
NC_000011.8:g.22228363del	NCBI36
NG_015844.1:g.62066del , LRG_868:g.62066del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.203del
ENST00000682266.1:c.433del	ENSP00000507766.1:p.Tyr145IlefsTer25
ENST00000682341.1:c.841del	ENSP00000508251.1:p.Tyr281IlefsTer25
ENST00000682530.1:c.*815del	ENSP00000506805.1:n.*815del
ENST00000683197.1:c.841del	ENSP00000507641.1:p.Tyr281IlefsTer25
ENST00000683411.1:c.433del	ENSP00000508397.1:p.Tyr145IlefsTer25
ENST00000683437.1:c.433del	ENSP00000508408.1:p.Tyr145IlefsTer25
ENST00000683613.1:n.1877del
ENST00000683834.1:n.1083del
ENST00000684663.1:c.838del	ENSP00000508009.1:p.Tyr280IlefsTer25
ENST00000324559.9:c.883del MANE Select	ENSP00000315371.9:p.Tyr295IlefsTer25
ENST00000648804.1:n.1218del
ENST00000324559.8:c.883del	ENSP00000315371.8:p.Tyr295IlefsTer25
NM_001142649.1:c.880del	NP_001136121.1:p.Tyr294IlefsTer25
NM_213599.2:c.883del , LRG_868t1:c.883del	NP_998764.1:p.Tyr295IlefsTer25
XM_005252820.2:c.841del	XP_005252877.2:p.Tyr281IlefsTer25
XM_005252821.2:c.838del	XP_005252878.2:p.Tyr280IlefsTer25
XM_005252822.3:c.805del	XP_005252879.1:p.Tyr269IlefsTer25
XM_005252823.3:c.802del	XP_005252880.1:p.Tyr268IlefsTer25
XM_011519949.1:c.790del	XP_011518251.1:p.Tyr264IlefsTer25
XM_005252820.3:c.841del	XP_005252877.2:p.Tyr281IlefsTer25
XM_005252821.3:c.838del	XP_005252878.2:p.Tyr280IlefsTer25
XM_005252822.4:c.805del	XP_005252879.1:p.Tyr269IlefsTer25
XM_011519949.2:c.790del	XP_011518251.1:p.Tyr264IlefsTer25
NM_001142649.2:c.880del	NP_001136121.1:p.Tyr294IlefsTer25
NM_213599.3:c.883del MANE Select	NP_998764.1:p.Tyr295IlefsTer25