Canonical Allele Identifier: CA633061778

Gene: SYNE4

Linked Data

• dbSNP Id: rs1335618547
• gnomAD v2: 19-36497355-CCT-C
• gnomAD v4: 19-36006453-CCT-C
• MyVariant Identifiers: chr19:g.36497356_36497357del (hg19) ; chr19:g.36006454_36006455del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006456_36006457del , CM000681.2:g.36006456_36006457del	GRCh38
NC_000019.9:g.36497358_36497359del , CM000681.1:g.36497358_36497359del	GRCh37
NC_000019.8:g.41189198_41189199del	NCBI36
NG_042831.1:g.7339_7340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.835_836del MANE Select	ENSP00000316130.3:p.Arg279GlyfsTer10
ENST00000397428.8:c.67-1018_67-1017del
ENST00000465425.2:n.947_948del
ENST00000324444.7:c.835_836del	ENSP00000316130.3:p.Arg279GlyfsTer10
ENST00000340477.9:c.496_497del	ENSP00000343152.5:p.Arg166GlyfsTer10
ENST00000397428.7:c.40-1018_40-1017del	ENSP00000380572.3:n.40-1018_40-1017del
ENST00000465425.1:n.947_948del
ENST00000490730.1:c.688+147_688+148del	ENSP00000422716.1:n.688+147_688+148del
ENST00000503121.5:c.242+1762_242+1763del
ENST00000505054.2:n.395-1018_395-1017del
NM_001039876.1:c.835_836del	NP_001034965.1:p.Arg279GlyfsTer10
NM_001039876.2:c.835_836del	NP_001034965.1:p.Arg279GlyfsTer10
NM_001297735.1:c.496_497del	NP_001284664.1:p.Arg166GlyfsTer10
NM_001297735.2:c.496_497del	NP_001284664.1:p.Arg166GlyfsTer10
XM_005258598.2:c.688+147_688+148del	XP_005258655.1:n.688+147_688+148del
XM_005258601.2:c.618+295_618+296del	XP_005258658.1:n.618+295_618+296del
XM_005258604.3:c.688+147_688+148del	XP_005258661.1:n.688+147_688+148del
NM_001039876.3:c.835_836del MANE Select	NP_001034965.1:p.Arg279GlyfsTer10
NM_001297735.3:c.496_497del	NP_001284664.1:p.Arg166GlyfsTer10