Canonical Allele Identifier: CA633061777

Gene: SYNE4

Linked Data

• gnomAD v2: 19-36497351-G-GC
• MyVariant Identifiers: chr19:g.36497351_36497352insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006454dup , CM000681.2:g.36006454dup	GRCh38
NC_000019.9:g.36497356dup , CM000681.1:g.36497356dup	GRCh37
NC_000019.8:g.41189196dup	NCBI36
NG_042831.1:g.7344dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.840dup MANE Select	ENSP00000316130.3:p.Pro281AlafsTer9
ENST00000397428.8:c.67-1013dup
ENST00000465425.2:n.952dup
ENST00000324444.7:c.840dup	ENSP00000316130.3:p.Pro281AlafsTer9
ENST00000340477.9:c.501dup	ENSP00000343152.5:p.Pro168AlafsTer9
ENST00000397428.7:c.40-1013dup	ENSP00000380572.3:n.40-1013dup
ENST00000465425.1:n.952dup
ENST00000490730.1:c.688+152dup	ENSP00000422716.1:n.688+152dup
ENST00000503121.5:c.242+1767dup
ENST00000505054.2:n.395-1013dup
NM_001039876.1:c.840dup	NP_001034965.1:p.Pro281AlafsTer9
NM_001039876.2:c.840dup	NP_001034965.1:p.Pro281AlafsTer9
NM_001297735.1:c.501dup	NP_001284664.1:p.Pro168AlafsTer9
NM_001297735.2:c.501dup	NP_001284664.1:p.Pro168AlafsTer9
XM_005258598.2:c.688+152dup	XP_005258655.1:n.688+152dup
XM_005258601.2:c.618+300dup	XP_005258658.1:n.618+300dup
XM_005258604.3:c.688+152dup	XP_005258661.1:n.688+152dup
NM_001039876.3:c.840dup MANE Select	NP_001034965.1:p.Pro281AlafsTer9
NM_001297735.3:c.501dup	NP_001284664.1:p.Pro168AlafsTer9