Canonical Allele Identifier: CA2612864737
Community Standard Title: NM_213599.3(ANO5):c.191del (p.Asn64IlefsTer27)
Gene: ANO5 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_213599.3:c.191del MANE Select NP_998764.1:p.Asn64IlefsTer27
ENST00000324559.9:c.191del MANE Select ENSP00000315371.9:p.Asn64IlefsTer27
NM_001142649.1:c.188del NP_001136121.1:p.Asn63IlefsTer27
NM_001142649.2:c.188del NP_001136121.1:p.Asn63IlefsTer27
NM_213599.2:c.191del , LRG_868t1:c.191del NP_998764.1:p.Asn64IlefsTer27
ENST00000324559.8:c.191del ENSP00000315371.8:p.Asn64IlefsTer27
ENST00000648804.1:n.756del
ENST00000682266.1:c.-260del ENSP00000507766.1:n.-260del
ENST00000682341.1:c.149del ENSP00000508251.1:p.Asn50IlefsTer27
ENST00000682530.1:c.*123del ENSP00000506805.1:n.*123del
ENST00000682684.1:n.570del
ENST00000683197.1:c.149del ENSP00000507641.1:p.Asn50IlefsTer27
ENST00000683411.1:c.-260del ENSP00000508397.1:n.-260del
ENST00000683437.1:c.-260del ENSP00000508408.1:n.-260del
ENST00000683613.1:n.1185del
ENST00000683834.1:n.391del
ENST00000683897.1:n.435del
ENST00000684365.1:n.560del
ENST00000684663.1:c.146del ENSP00000508009.1:p.Asn49IlefsTer27
XM_005252820.2:c.149del XP_005252877.2:p.Asn50IlefsTer27
XM_005252820.3:c.149del XP_005252877.2:p.Asn50IlefsTer27
XM_005252821.2:c.146del XP_005252878.2:p.Asn49IlefsTer27
XM_005252821.3:c.146del XP_005252878.2:p.Asn49IlefsTer27
XM_005252822.3:c.113del XP_005252879.1:p.Asn38IlefsTer27
XM_005252822.4:c.113del XP_005252879.1:p.Asn38IlefsTer27
XM_005252823.3:c.110del XP_005252880.1:p.Asn37IlefsTer27
XM_011519949.1:c.98del XP_011518251.1:p.Asn33IlefsTer27
XM_011519949.2:c.98del XP_011518251.1:p.Asn33IlefsTer27