Canonical Allele Identifier: CA2333925843
Gene: SYNE4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.36006435_36006436delinsTC , CM000681.2:g.36006435_36006436delinsTC GRCh38
NC_000019.9:g.36497337_36497338delinsTC , CM000681.1:g.36497337_36497338delinsTC GRCh37
NC_000019.8:g.41189177_41189178delinsTC NCBI36
NG_042831.1:g.7358_7359delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000324444.9:c.854_855delinsGA MANE Select ENSP00000316130.3:p.Gly285=
ENST00000397428.8:c.67-999_67-998delinsGA
ENST00000465425.2:n.966_967delinsGA
ENST00000324444.7:c.854_855delinsGA ENSP00000316130.3:p.Gly285=
ENST00000340477.9:c.515_516delinsGA ENSP00000343152.5:p.Gly172=
ENST00000397428.7:c.40-999_40-998delinsGA ENSP00000380572.3:n.40-999_40-998delinsGA
ENST00000465425.1:n.966_967delinsGA
ENST00000490730.1:c.688+166_688+167delinsGA ENSP00000422716.1:n.688+166_688+167delinsGA
ENST00000503121.5:c.242+1781_242+1782delinsGA
ENST00000505054.2:n.395-999_395-998delinsGA
NM_001039876.1:c.854_855delinsGA NP_001034965.1:p.Gly285=
NM_001039876.2:c.854_855delinsGA NP_001034965.1:p.Gly285=
NM_001297735.1:c.515_516delinsGA NP_001284664.1:p.Gly172=
NM_001297735.2:c.515_516delinsGA NP_001284664.1:p.Gly172=
XM_005258598.2:c.688+166_688+167delinsGA XP_005258655.1:n.688+166_688+167delinsGA
XM_005258601.2:c.618+314_618+315delinsGA XP_005258658.1:n.618+314_618+315delinsGA
XM_005258604.3:c.688+166_688+167delinsGA XP_005258661.1:n.688+166_688+167delinsGA
NM_001039876.3:c.854_855delinsGA MANE Select NP_001034965.1:p.Gly285=
NM_001297735.3:c.515_516delinsGA NP_001284664.1:p.Gly172=