Canonical Allele Identifier: CA2333925872

Gene: SYNE4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006453_36006455delinsCCT , CM000681.2:g.36006453_36006455delinsCCT	GRCh38
NC_000019.9:g.36497355_36497357delinsCCT , CM000681.1:g.36497355_36497357delinsCCT	GRCh37
NC_000019.8:g.41189195_41189197delinsCCT	NCBI36
NG_042831.1:g.7339_7341delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.835_837delinsAGG MANE Select	ENSP00000316130.3:p.Arg279=
ENST00000397428.8:c.67-1018_67-1016delinsAGG
ENST00000465425.2:n.947_949delinsAGG
ENST00000324444.7:c.835_837delinsAGG	ENSP00000316130.3:p.Arg279=
ENST00000340477.9:c.496_498delinsAGG	ENSP00000343152.5:p.Arg166=
ENST00000397428.7:c.40-1018_40-1016delinsAGG	ENSP00000380572.3:n.40-1018_40-1016delinsAGG
ENST00000465425.1:n.947_949delinsAGG
ENST00000490730.1:c.688+147_688+149delinsAGG	ENSP00000422716.1:n.688+147_688+149delinsAGG
ENST00000503121.5:c.242+1762_242+1764delinsAGG
ENST00000505054.2:n.395-1018_395-1016delinsAGG
NM_001039876.1:c.835_837delinsAGG	NP_001034965.1:p.Arg279=
NM_001039876.2:c.835_837delinsAGG	NP_001034965.1:p.Arg279=
NM_001297735.1:c.496_498delinsAGG	NP_001284664.1:p.Arg166=
NM_001297735.2:c.496_498delinsAGG	NP_001284664.1:p.Arg166=
XM_005258598.2:c.688+147_688+149delinsAGG	XP_005258655.1:n.688+147_688+149delinsAGG
XM_005258601.2:c.618+295_618+297delinsAGG	XP_005258658.1:n.618+295_618+297delinsAGG
XM_005258604.3:c.688+147_688+149delinsAGG	XP_005258661.1:n.688+147_688+149delinsAGG
NM_001039876.3:c.835_837delinsAGG MANE Select	NP_001034965.1:p.Arg279=
NM_001297735.3:c.496_498delinsAGG	NP_001284664.1:p.Arg166=