Canonical Allele Identifier: CA2333925909
Gene: SYNE4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.36006519_36006527delinsGCCCCCAAT , CM000681.2:g.36006519_36006527delinsGCCCCCAAT GRCh38
NC_000019.9:g.36497421_36497429delinsGCCCCCAAT , CM000681.1:g.36497421_36497429delinsGCCCCCAAT GRCh37
NC_000019.8:g.41189261_41189269delinsGCCCCCAAT NCBI36
NG_042831.1:g.7267_7275delinsATTGGGGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000324444.9:c.763_771delinsATTGGGGGC MANE Select ENSP00000316130.3:p.Ile255=
ENST00000397428.8:c.67-1090_67-1082delinsATTGGGGGC
ENST00000465425.2:n.875_883delinsATTGGGGGC
ENST00000324444.7:c.763_771delinsATTGGGGGC ENSP00000316130.3:p.Ile255=
ENST00000340477.9:c.424_432delinsATTGGGGGC ENSP00000343152.5:p.Ile142=
ENST00000397428.7:c.40-1090_40-1082delinsATTGGGGGC ENSP00000380572.3:n.40-1090_40-1082delinsATTGGGGGC
ENST00000465425.1:n.875_883delinsATTGGGGGC
ENST00000490730.1:c.688+75_688+83delinsATTGGGGGC ENSP00000422716.1:n.688+75_688+83delinsATTGGGGGC
ENST00000503121.5:c.242+1690_242+1698delinsATTGGGGGC
ENST00000505054.2:n.395-1090_395-1082delinsATTGGGGGC
NM_001039876.1:c.763_771delinsATTGGGGGC NP_001034965.1:p.Ile255=
NM_001039876.2:c.763_771delinsATTGGGGGC NP_001034965.1:p.Ile255=
NM_001297735.1:c.424_432delinsATTGGGGGC NP_001284664.1:p.Ile142=
NM_001297735.2:c.424_432delinsATTGGGGGC NP_001284664.1:p.Ile142=
XM_005258598.2:c.688+75_688+83delinsATTGGGGGC XP_005258655.1:n.688+75_688+83delinsATTGGGGGC
XM_005258601.2:c.618+223_618+231delinsATTGGGGGC XP_005258658.1:n.618+223_618+231delinsATTGGGGGC
XM_005258604.3:c.688+75_688+83delinsATTGGGGGC XP_005258661.1:n.688+75_688+83delinsATTGGGGGC
NM_001039876.3:c.763_771delinsATTGGGGGC MANE Select NP_001034965.1:p.Ile255=
NM_001297735.3:c.424_432delinsATTGGGGGC NP_001284664.1:p.Ile142=