Canonical Allele Identifier: CA633061781

Gene: SYNE4

Linked Data

• dbSNP Id: rs1158760660
• gnomAD v2: 19-36497572-AC-A
• gnomAD v4: 19-36006670-AC-A
• MyVariant Identifiers: chr19:g.36497573del (hg19) ; chr19:g.36006671del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006672del , CM000681.2:g.36006672del	GRCh38
NC_000019.9:g.36497574del , CM000681.1:g.36497574del	GRCh37
NC_000019.8:g.41189414del	NCBI36
NG_042831.1:g.7123del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.619del
ENST00000397428.8:c.67-1234del
ENST00000465425.2:n.731del
ENST00000324444.7:c.619del
ENST00000340477.9:c.280del
ENST00000397428.7:c.40-1234del	ENSP00000380572.3:n.40-1234del
ENST00000465425.1:n.731del
ENST00000490730.1:c.619del
ENST00000503121.5:c.242+1546del
ENST00000505054.2:n.395-1234del
NM_001039876.1:c.619del
NM_001039876.2:c.619del
NM_001297735.1:c.280del
NM_001297735.2:c.280del
XM_005258598.2:c.619del
XM_005258601.2:c.618+79del	XP_005258658.1:n.618+79del
XM_005258604.3:c.619del
NM_001039876.3:c.619del
NM_001297735.3:c.280del