Canonical Allele Identifier: CA2333926030

Gene: SYNE4

Linked Data

• dbSNP Id: rs1976866024

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006753_36006772dup , CM000681.2:g.36006753_36006772dup	GRCh38
NC_000019.9:g.36497655_36497674dup , CM000681.1:g.36497655_36497674dup	GRCh37
NC_000019.8:g.41189495_41189514dup	NCBI36
NG_042831.1:g.7023_7042dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.597_616dup MANE Select	ENSP00000316130.3:p.Leu206ProfsTer?
ENST00000397428.8:c.67-1334_67-1315dup
ENST00000465425.2:n.709_728dup
ENST00000324444.7:c.597_616dup	ENSP00000316130.3:p.Leu206ProfsTer?
ENST00000340477.9:c.280-100_280-81dup	ENSP00000343152.5:n.280-100_280-81dup
ENST00000397428.7:c.40-1334_40-1315dup	ENSP00000380572.3:n.40-1334_40-1315dup
ENST00000465425.1:n.709_728dup
ENST00000490730.1:c.597_616dup	ENSP00000422716.1:p.Leu206ProfsTer?
ENST00000503121.5:c.242+1446_242+1465dup
ENST00000505054.2:n.395-1334_395-1315dup
NM_001039876.1:c.597_616dup	NP_001034965.1:p.Leu206ProfsTer?
NM_001039876.2:c.597_616dup	NP_001034965.1:p.Leu206ProfsTer?
NM_001297735.1:c.280-100_280-81dup	NP_001284664.1:n.280-100_280-81dup
NM_001297735.2:c.280-100_280-81dup	NP_001284664.1:n.280-100_280-81dup
XM_005258598.2:c.597_616dup	XP_005258655.1:p.Leu206ProfsTer?
XM_005258601.2:c.597_616dup	XP_005258658.1:p.Leu206ProfsTer30
XM_005258604.3:c.597_616dup	XP_005258661.1:p.Leu206ProfsTer?
NM_001039876.3:c.597_616dup MANE Select	NP_001034965.1:p.Leu206ProfsTer?
NM_001297735.3:c.280-100_280-81dup	NP_001284664.1:n.280-100_280-81dup