Canonical Allele Identifier: CA2580074390

Gene: SYNGAP1

Linked Data

• ClinVar Variation Id: 1739857
• ClinVar RCV Id: RCV002332194

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432731_33432744dup , CM000668.2:g.33432731_33432744dup	GRCh38
NC_000006.11:g.33400508_33400521dup , CM000668.1:g.33400508_33400521dup	GRCh37
NC_000006.10:g.33508486_33508499dup	NCBI36
NG_016137.1:g.17662_17675dup
NG_016137.2:g.17662_17675dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.176_189dup	ENSP00000507403.1:p.Leu64SerfsTer29
ENST00000418600.7:c.434_447dup	ENSP00000403636.3:p.Leu150SerfsTer29
ENST00000449372.7:c.434_447dup	ENSP00000416519.4:p.Leu150SerfsTer29
ENST00000629380.3:c.434_447dup	ENSP00000486463.1:p.Leu150SerfsTer29
ENST00000638142.2:c.434_447dup	ENSP00000490803.1:p.Leu150SerfsTer29
ENST00000644458.1:c.434_447dup	ENSP00000495541.1:p.Leu150SerfsTer29
ENST00000645250.1:c.257_270dup	ENSP00000494861.1:p.Leu91SerfsTer29
ENST00000646630.1:c.434_447dup MANE Select	ENSP00000496007.1:p.Leu150SerfsTer29
ENST00000293748.9:c.389_402dup	ENSP00000293748.6:p.Leu135SerfsTer29
ENST00000418600.6:c.434_447dup	ENSP00000403636.3:p.Leu150SerfsTer29
ENST00000428982.4:c.257_270dup	ENSP00000412475.2:p.Leu91SerfsTer29
ENST00000449372.6:c.434_447dup	ENSP00000416519.3:p.Leu150SerfsTer29
ENST00000479510.2:n.629_642dup
ENST00000628646.2:c.434_447dup	ENSP00000486431.1:p.Leu150SerfsTer29
ENST00000629380.2:c.434_447dup	ENSP00000486463.1:p.Leu150SerfsTer29
NM_006772.2:c.434_447dup	NP_006763.2:p.Leu150SerfsTer29
NM_001130066.1:c.434_447dup	NP_001123538.1:p.Leu150SerfsTer29
NM_001130066.2:c.434_447dup	NP_001123538.1:p.Leu150SerfsTer29
NM_006772.3:c.434_447dup MANE Select	NP_006763.2:p.Leu150SerfsTer29