Canonical Allele Identifier: CA1957403093

Gene: ANO5

Linked Data

• dbSNP Id: rs1854678706
• gnomAD v4: 11-22272942-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272944del , CM000673.2:g.22272944del	GRCh38
NC_000011.9:g.22294490del , CM000673.1:g.22294490del	GRCh37
NC_000011.8:g.22251066del	NCBI36
NG_015844.1:g.84769del , LRG_868:g.84769del

Transcript Alleles

HGVS	Amino-acid change
ENST00000532043.2:n.207del
ENST00000682266.1:c.1740del	ENSP00000507766.1:p.Trp580CysfsTer30
ENST00000682341.1:c.2148del	ENSP00000508251.1:p.Trp716CysfsTer30
ENST00000683197.1:c.2148del	ENSP00000507641.1:p.Trp716CysfsTer30
ENST00000683411.1:c.1740del	ENSP00000508397.1:p.Trp580CysfsTer30
ENST00000683437.1:c.1740del	ENSP00000508408.1:p.Trp580CysfsTer30
ENST00000683613.1:n.3184del
ENST00000684663.1:c.2145del	ENSP00000508009.1:p.Trp715CysfsTer30
ENST00000324559.9:c.2190del MANE Select	ENSP00000315371.9:p.Trp730CysfsTer30
ENST00000648804.1:n.2525del
ENST00000324559.8:c.2190del	ENSP00000315371.8:p.Trp730CysfsTer30
ENST00000532043.1:n.207del
NM_001142649.1:c.2187del	NP_001136121.1:p.Trp729CysfsTer30
NM_213599.2:c.2190del , LRG_868t1:c.2190del	NP_998764.1:p.Trp730CysfsTer30
XM_005252820.2:c.2148del	XP_005252877.2:p.Trp716CysfsTer30
XM_005252821.2:c.2145del	XP_005252878.2:p.Trp715CysfsTer30
XM_005252822.3:c.2112del	XP_005252879.1:p.Trp704CysfsTer30
XM_005252823.3:c.2109del	XP_005252880.1:p.Trp703CysfsTer30
XM_011519949.1:c.2097del	XP_011518251.1:p.Trp699CysfsTer30
XM_005252820.3:c.2148del	XP_005252877.2:p.Trp716CysfsTer30
XM_005252821.3:c.2145del	XP_005252878.2:p.Trp715CysfsTer30
XM_005252822.4:c.2112del	XP_005252879.1:p.Trp704CysfsTer30
XM_011519949.2:c.2097del	XP_011518251.1:p.Trp699CysfsTer30
NM_001142649.2:c.2187del	NP_001136121.1:p.Trp729CysfsTer30
NM_213599.3:c.2190del MANE Select	NP_998764.1:p.Trp730CysfsTer30