Canonical Allele Identifier: CA881839870

Gene: SYNE4

Linked Data

• dbSNP Id: rs1471984781
• gnomAD v3: 19-36006392-C-CAGA
• gnomAD v4: 19-36006392-C-CAGA
• MyVariant Identifiers: chr19:g.36497294_36497295insAGA (hg19) ; chr19:g.36006392_36006393insAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006395_36006397dup , CM000681.2:g.36006395_36006397dup	GRCh38
NC_000019.9:g.36497297_36497299dup , CM000681.1:g.36497297_36497299dup	GRCh37
NC_000019.8:g.41189137_41189139dup	NCBI36
NG_042831.1:g.7399_7401dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.867+28_867+30dup MANE Select	ENSP00000316130.3:n.867+28_867+30dup
ENST00000397428.8:c.67-958_67-956dup
ENST00000465425.2:n.1007_1009dup
ENST00000324444.7:c.867+28_867+30dup	ENSP00000316130.3:n.867+28_867+30dup
ENST00000340477.9:c.528+28_528+30dup	ENSP00000343152.5:n.528+28_528+30dup
ENST00000397428.7:c.40-958_40-956dup	ENSP00000380572.3:n.40-958_40-956dup
ENST00000465425.1:n.1007_1009dup
ENST00000490730.1:c.688+207_688+209dup	ENSP00000422716.1:n.688+207_688+209dup
ENST00000503121.5:c.242+1822_242+1824dup
ENST00000505054.2:n.395-958_395-956dup
NM_001039876.1:c.867+28_867+30dup	NP_001034965.1:n.867+28_867+30dup
NM_001039876.2:c.867+28_867+30dup	NP_001034965.1:n.867+28_867+30dup
NM_001297735.1:c.528+28_528+30dup	NP_001284664.1:n.528+28_528+30dup
NM_001297735.2:c.528+28_528+30dup	NP_001284664.1:n.528+28_528+30dup
XM_005258598.2:c.688+207_688+209dup	XP_005258655.1:n.688+207_688+209dup
XM_005258601.2:c.618+355_618+357dup	XP_005258658.1:n.618+355_618+357dup
XM_005258604.3:c.688+207_688+209dup	XP_005258661.1:n.688+207_688+209dup
NM_001039876.3:c.867+28_867+30dup MANE Select	NP_001034965.1:n.867+28_867+30dup
NM_001297735.3:c.528+28_528+30dup	NP_001284664.1:n.528+28_528+30dup