Canonical Allele Identifier: CA995503274

Gene: SYNE4

Linked Data

• dbSNP Id: rs1976852967
• gnomAD v3: 19-36006435-TC-T
• gnomAD v4: 19-36006435-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006439del , CM000681.2:g.36006439del	GRCh38
NC_000019.9:g.36497341del , CM000681.1:g.36497341del	GRCh37
NC_000019.8:g.41189181del	NCBI36
NG_042831.1:g.7358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.854del MANE Select	ENSP00000316130.3:p.Gly285AspfsTer27
ENST00000397428.8:c.67-999del
ENST00000465425.2:n.966del
ENST00000324444.7:c.854del	ENSP00000316130.3:p.Gly285AspfsTer27
ENST00000340477.9:c.515del	ENSP00000343152.5:p.Gly172AspfsTer27
ENST00000397428.7:c.40-999del	ENSP00000380572.3:n.40-999del
ENST00000465425.1:n.966del
ENST00000490730.1:c.688+166del	ENSP00000422716.1:n.688+166del
ENST00000503121.5:c.242+1781del
ENST00000505054.2:n.395-999del
NM_001039876.1:c.854del	NP_001034965.1:p.Gly285AspfsTer27
NM_001039876.2:c.854del	NP_001034965.1:p.Gly285AspfsTer27
NM_001297735.1:c.515del	NP_001284664.1:p.Gly172AspfsTer27
NM_001297735.2:c.515del	NP_001284664.1:p.Gly172AspfsTer27
XM_005258598.2:c.688+166del	XP_005258655.1:n.688+166del
XM_005258601.2:c.618+314del	XP_005258658.1:n.618+314del
XM_005258604.3:c.688+166del	XP_005258661.1:n.688+166del
NM_001039876.3:c.854del MANE Select	NP_001034965.1:p.Gly285AspfsTer27
NM_001297735.3:c.515del	NP_001284664.1:p.Gly172AspfsTer27