Canonical Allele Identifier: CA5922882
Community Standard Title: NM_213599.3(ANO5):c.304_308del (p.Lys102ValfsTer2)
Gene: ANO5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22225993_22225997del , CM000673.2:g.22225993_22225997del GRCh38
NC_000011.9:g.22247539_22247543del , CM000673.1:g.22247539_22247543del GRCh37
NC_000011.8:g.22204115_22204119del NCBI36
NG_015844.1:g.37818_37822del , LRG_868:g.37818_37822del

Transcript Alleles

HGVS Amino-acid Change
NM_213599.3:c.304_308del MANE Select NP_998764.1:p.Lys102ValfsTer2
ENST00000324559.9:c.304_308del MANE Select ENSP00000315371.9:p.Lys102ValfsTer2
NM_001142649.1:c.301_305del NP_001136121.1:p.Lys101ValfsTer2
NM_001142649.2:c.301_305del NP_001136121.1:p.Lys101ValfsTer2
NM_213599.2:c.304_308del , LRG_868t1:c.304_308del NP_998764.1:p.Lys102ValfsTer2
ENST00000324559.8:c.304_308del ENSP00000315371.8:p.Lys102ValfsTer2
ENST00000648804.1:n.869_873del
ENST00000682266.1:c.-147_-143del ENSP00000507766.1:n.-147_-143del
ENST00000682341.1:c.262_266del ENSP00000508251.1:p.Lys88ValfsTer2
ENST00000682530.1:c.*236_*240del ENSP00000506805.1:n.*236_*240del
ENST00000682684.1:n.683_687del
ENST00000683197.1:c.262_266del ENSP00000507641.1:p.Lys88ValfsTer2
ENST00000683411.1:c.-147_-143del ENSP00000508397.1:n.-147_-143del
ENST00000683437.1:c.-147_-143del ENSP00000508408.1:n.-147_-143del
ENST00000683613.1:n.1298_1302del
ENST00000683834.1:n.504_508del
ENST00000684663.1:c.259_263del ENSP00000508009.1:p.Lys87ValfsTer2
XM_005252820.2:c.262_266del XP_005252877.2:p.Lys88ValfsTer2
XM_005252820.3:c.262_266del XP_005252877.2:p.Lys88ValfsTer2
XM_005252821.2:c.259_263del XP_005252878.2:p.Lys87ValfsTer2
XM_005252821.3:c.259_263del XP_005252878.2:p.Lys87ValfsTer2
XM_005252822.3:c.226_230del XP_005252879.1:p.Lys76ValfsTer2
XM_005252822.4:c.226_230del XP_005252879.1:p.Lys76ValfsTer2
XM_005252823.3:c.223_227del XP_005252880.1:p.Lys75ValfsTer2
XM_011519949.1:c.211_215del XP_011518251.1:p.Lys71ValfsTer2
XM_011519949.2:c.211_215del XP_011518251.1:p.Lys71ValfsTer2