Canonical Allele Identifier: CA2333925916
Gene: SYNE4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.36006529_36006530delinsTC , CM000681.2:g.36006529_36006530delinsTC GRCh38
NC_000019.9:g.36497431_36497432delinsTC , CM000681.1:g.36497431_36497432delinsTC GRCh37
NC_000019.8:g.41189271_41189272delinsTC NCBI36
NG_042831.1:g.7264_7265delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000324444.9:c.760_761delinsGA MANE Select ENSP00000316130.3:p.Asp254=
ENST00000397428.8:c.67-1093_67-1092delinsGA
ENST00000465425.2:n.872_873delinsGA
ENST00000324444.7:c.760_761delinsGA ENSP00000316130.3:p.Asp254=
ENST00000340477.9:c.421_422delinsGA ENSP00000343152.5:p.Asp141=
ENST00000397428.7:c.40-1093_40-1092delinsGA ENSP00000380572.3:n.40-1093_40-1092delinsGA
ENST00000465425.1:n.872_873delinsGA
ENST00000490730.1:c.688+72_688+73delinsGA ENSP00000422716.1:n.688+72_688+73delinsGA
ENST00000503121.5:c.242+1687_242+1688delinsGA
ENST00000505054.2:n.395-1093_395-1092delinsGA
NM_001039876.1:c.760_761delinsGA NP_001034965.1:p.Asp254=
NM_001039876.2:c.760_761delinsGA NP_001034965.1:p.Asp254=
NM_001297735.1:c.421_422delinsGA NP_001284664.1:p.Asp141=
NM_001297735.2:c.421_422delinsGA NP_001284664.1:p.Asp141=
XM_005258598.2:c.688+72_688+73delinsGA XP_005258655.1:n.688+72_688+73delinsGA
XM_005258601.2:c.618+220_618+221delinsGA XP_005258658.1:n.618+220_618+221delinsGA
XM_005258604.3:c.688+72_688+73delinsGA XP_005258661.1:n.688+72_688+73delinsGA
NM_001039876.3:c.760_761delinsGA MANE Select NP_001034965.1:p.Asp254=
NM_001297735.3:c.421_422delinsGA NP_001284664.1:p.Asp141=