Canonical Allele Identifier: CA2612837287

Gene: ANO5

Linked Data

• gnomAD v4: 11-22272947-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272948del , CM000673.2:g.22272948del	GRCh38
NC_000011.9:g.22294494del , CM000673.1:g.22294494del	GRCh37
NC_000011.8:g.22251070del	NCBI36
NG_015844.1:g.84773del , LRG_868:g.84773del

Transcript Alleles

HGVS	Amino-acid change
ENST00000532043.2:n.211del
ENST00000682266.1:c.1744del	ENSP00000507766.1:p.Asp582ThrfsTer28
ENST00000682341.1:c.2152del	ENSP00000508251.1:p.Asp718ThrfsTer28
ENST00000683197.1:c.2152del	ENSP00000507641.1:p.Asp718ThrfsTer28
ENST00000683411.1:c.1744del	ENSP00000508397.1:p.Asp582ThrfsTer28
ENST00000683437.1:c.1744del	ENSP00000508408.1:p.Asp582ThrfsTer28
ENST00000683613.1:n.3188del
ENST00000684663.1:c.2149del	ENSP00000508009.1:p.Asp717ThrfsTer28
ENST00000324559.9:c.2194del MANE Select	ENSP00000315371.9:p.Asp732ThrfsTer28
ENST00000648804.1:n.2529del
ENST00000324559.8:c.2194del	ENSP00000315371.8:p.Asp732ThrfsTer28
ENST00000532043.1:n.211del
NM_001142649.1:c.2191del	NP_001136121.1:p.Asp731ThrfsTer28
NM_213599.2:c.2194del , LRG_868t1:c.2194del	NP_998764.1:p.Asp732ThrfsTer28
XM_005252820.2:c.2152del	XP_005252877.2:p.Asp718ThrfsTer28
XM_005252821.2:c.2149del	XP_005252878.2:p.Asp717ThrfsTer28
XM_005252822.3:c.2116del	XP_005252879.1:p.Asp706ThrfsTer28
XM_005252823.3:c.2113del	XP_005252880.1:p.Asp705ThrfsTer28
XM_011519949.1:c.2101del	XP_011518251.1:p.Asp701ThrfsTer28
XM_005252820.3:c.2152del	XP_005252877.2:p.Asp718ThrfsTer28
XM_005252821.3:c.2149del	XP_005252878.2:p.Asp717ThrfsTer28
XM_005252822.4:c.2116del	XP_005252879.1:p.Asp706ThrfsTer28
XM_011519949.2:c.2101del	XP_011518251.1:p.Asp701ThrfsTer28
NM_001142649.2:c.2191del	NP_001136121.1:p.Asp731ThrfsTer28
NM_213599.3:c.2194del MANE Select	NP_998764.1:p.Asp732ThrfsTer28