Canonical Allele Identifier: CA633061775

Gene: SYNE4

Linked Data

• ClinVar Variation Id: 2970784
• ClinVar RCV Id: RCV003824486
• dbSNP Id: rs1184106179
• gnomAD v2: 19-36497306-CA-C
• gnomAD v3: 19-36006404-CA-C
• gnomAD v4: 19-36006404-CA-C
• MyVariant Identifiers: chr19:g.36497307del (hg19) ; chr19:g.36006405del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006406del , CM000681.2:g.36006406del	GRCh38
NC_000019.9:g.36497308del , CM000681.1:g.36497308del	GRCh37
NC_000019.8:g.41189148del	NCBI36
NG_042831.1:g.7389del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.867+18del MANE Select	ENSP00000316130.3:n.867+18del
ENST00000397428.8:c.67-968del
ENST00000465425.2:n.997del
ENST00000324444.7:c.867+18del	ENSP00000316130.3:n.867+18del
ENST00000340477.9:c.528+18del	ENSP00000343152.5:n.528+18del
ENST00000397428.7:c.40-968del	ENSP00000380572.3:n.40-968del
ENST00000465425.1:n.997del
ENST00000490730.1:c.688+197del	ENSP00000422716.1:n.688+197del
ENST00000503121.5:c.242+1812del
ENST00000505054.2:n.395-968del
NM_001039876.1:c.867+18del	NP_001034965.1:n.867+18del
NM_001039876.2:c.867+18del	NP_001034965.1:n.867+18del
NM_001297735.1:c.528+18del	NP_001284664.1:n.528+18del
NM_001297735.2:c.528+18del	NP_001284664.1:n.528+18del
XM_005258598.2:c.688+197del	XP_005258655.1:n.688+197del
XM_005258601.2:c.618+345del	XP_005258658.1:n.618+345del
XM_005258604.3:c.688+197del	XP_005258661.1:n.688+197del
NM_001039876.3:c.867+18del MANE Select	NP_001034965.1:n.867+18del
NM_001297735.3:c.528+18del	NP_001284664.1:n.528+18del