Canonical Allele Identifier: CA633061780

Gene: SYNE4

Linked Data

• dbSNP Id: rs1384147415
• gnomAD v2: 19-36497526-TC-T
• gnomAD v4: 19-36006624-TC-T
• MyVariant Identifiers: chr19:g.36497527del (hg19) ; chr19:g.36006625del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006627del , CM000681.2:g.36006627del	GRCh38
NC_000019.9:g.36497529del , CM000681.1:g.36497529del	GRCh37
NC_000019.8:g.41189369del	NCBI36
NG_042831.1:g.7169del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.665del MANE Select	ENSP00000316130.3:p.Gly222GlufsTer?
ENST00000397428.8:c.67-1188del
ENST00000465425.2:n.777del
ENST00000324444.7:c.665del	ENSP00000316130.3:p.Gly222GlufsTer?
ENST00000340477.9:c.326del	ENSP00000343152.5:p.Gly109GlufsTer?
ENST00000397428.7:c.40-1188del	ENSP00000380572.3:n.40-1188del
ENST00000465425.1:n.777del
ENST00000490730.1:c.665del	ENSP00000422716.1:p.Gly222GlufsTer?
ENST00000503121.5:c.242+1592del
ENST00000505054.2:n.395-1188del
NM_001039876.1:c.665del	NP_001034965.1:p.Gly222GlufsTer?
NM_001039876.2:c.665del	NP_001034965.1:p.Gly222GlufsTer?
NM_001297735.1:c.326del	NP_001284664.1:p.Gly109GlufsTer?
NM_001297735.2:c.326del	NP_001284664.1:p.Gly109GlufsTer?
XM_005258598.2:c.665del	XP_005258655.1:p.Gly222GlufsTer?
XM_005258601.2:c.618+125del	XP_005258658.1:n.618+125del
XM_005258604.3:c.665del	XP_005258661.1:p.Gly222GlufsTer?
NM_001039876.3:c.665del MANE Select	NP_001034965.1:p.Gly222GlufsTer?
NM_001297735.3:c.326del	NP_001284664.1:p.Gly109GlufsTer?