Canonical Allele Identifier: CA2584626446

Gene: SYNE4

Linked Data

• gnomAD v4: 19-36006445-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006449del , CM000681.2:g.36006449del	GRCh38
NC_000019.9:g.36497351del , CM000681.1:g.36497351del	GRCh37
NC_000019.8:g.41189191del	NCBI36
NG_042831.1:g.7348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.844del MANE Select	ENSP00000316130.3:p.Gln282ArgfsTer30
ENST00000397428.8:c.67-1009del
ENST00000465425.2:n.956del
ENST00000324444.7:c.844del	ENSP00000316130.3:p.Gln282ArgfsTer30
ENST00000340477.9:c.505del	ENSP00000343152.5:p.Gln169ArgfsTer30
ENST00000397428.7:c.40-1009del	ENSP00000380572.3:n.40-1009del
ENST00000465425.1:n.956del
ENST00000490730.1:c.688+156del	ENSP00000422716.1:n.688+156del
ENST00000503121.5:c.242+1771del
ENST00000505054.2:n.395-1009del
NM_001039876.1:c.844del	NP_001034965.1:p.Gln282ArgfsTer30
NM_001039876.2:c.844del	NP_001034965.1:p.Gln282ArgfsTer30
NM_001297735.1:c.505del	NP_001284664.1:p.Gln169ArgfsTer30
NM_001297735.2:c.505del	NP_001284664.1:p.Gln169ArgfsTer30
XM_005258598.2:c.688+156del	XP_005258655.1:n.688+156del
XM_005258601.2:c.618+304del	XP_005258658.1:n.618+304del
XM_005258604.3:c.688+156del	XP_005258661.1:n.688+156del
NM_001039876.3:c.844del MANE Select	NP_001034965.1:p.Gln282ArgfsTer30
NM_001297735.3:c.505del	NP_001284664.1:p.Gln169ArgfsTer30