Canonical Allele Identifier: CA9393875

Gene: SYNE4

Linked Data

• ClinVar Variation Id: 2983817
• ClinVar RCV Id: RCV003840912
• dbSNP Id: rs772404105
• ExAC: 19:36497525 CTCCCT / C
• gnomAD v2: 19-36497525-CTCCCT-C
• gnomAD v3: 19-36006623-CTCCCT-C
• gnomAD v4: 19-36006623-CTCCCT-C
• MyVariant Identifiers: chr19:g.36497526_36497530del (hg19) ; chr19:g.36006624_36006628del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006624_36006628del , CM000681.2:g.36006624_36006628del	GRCh38
NC_000019.9:g.36497526_36497530del , CM000681.1:g.36497526_36497530del	GRCh37
NC_000019.8:g.41189366_41189370del	NCBI36
NG_042831.1:g.7166_7170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.662_666del MANE Select	ENSP00000316130.3:p.Glu221GlyfsTer18
ENST00000397428.8:c.67-1191_67-1187del
ENST00000465425.2:n.774_778del
ENST00000324444.7:c.662_666del	ENSP00000316130.3:p.Glu221GlyfsTer18
ENST00000340477.9:c.323_327del	ENSP00000343152.5:p.Glu108GlyfsTer18
ENST00000397428.7:c.40-1191_40-1187del	ENSP00000380572.3:n.40-1191_40-1187del
ENST00000465425.1:n.774_778del
ENST00000490730.1:c.662_666del	ENSP00000422716.1:p.Glu221GlyfsTer30
ENST00000503121.5:c.242+1589_242+1593del
ENST00000505054.2:n.395-1191_395-1187del
NM_001039876.1:c.662_666del	NP_001034965.1:p.Glu221GlyfsTer18
NM_001039876.2:c.662_666del	NP_001034965.1:p.Glu221GlyfsTer18
NM_001297735.1:c.323_327del	NP_001284664.1:p.Glu108GlyfsTer18
NM_001297735.2:c.323_327del	NP_001284664.1:p.Glu108GlyfsTer18
XM_005258598.2:c.662_666del	XP_005258655.1:p.Glu221GlyfsTer30
XM_005258601.2:c.618+122_618+126del	XP_005258658.1:n.618+122_618+126del
XM_005258604.3:c.662_666del	XP_005258661.1:p.Glu221GlyfsTer30
NM_001039876.3:c.662_666del MANE Select	NP_001034965.1:p.Glu221GlyfsTer18
NM_001297735.3:c.323_327del	NP_001284664.1:p.Glu108GlyfsTer18