Canonical Allele Identifier: CA137096976

Gene: SYNGAP1

Linked Data

• dbSNP Id: rs34885339
• COSMIC: COSM4731582 ; COSM4731583
• MyVariant Identifiers: chr6:g.33400485del (hg19) ; chr6:g.33432708del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432712del , CM000668.2:g.33432712del	GRCh38
NC_000006.11:g.33400489del , CM000668.1:g.33400489del	GRCh37
NC_000006.10:g.33508467del	NCBI36
NG_016137.1:g.17643del
NG_016137.2:g.17643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.157del	ENSP00000507403.1:p.Ser53AlafsTer?
ENST00000418600.7:c.415del	ENSP00000403636.3:p.Ser139AlafsTer?
ENST00000449372.7:c.415del	ENSP00000416519.4:p.Ser139AlafsTer?
ENST00000629380.3:c.415del	ENSP00000486463.1:p.Ser139AlafsTer?
ENST00000638142.2:c.415del	ENSP00000490803.1:p.Ser139AlafsTer?
ENST00000644458.1:c.415del	ENSP00000495541.1:p.Ser139AlafsTer?
ENST00000645250.1:c.238del	ENSP00000494861.1:p.Ser80AlafsTer?
ENST00000646630.1:c.415del MANE Select	ENSP00000496007.1:p.Ser139AlafsTer?
ENST00000293748.9:c.370del	ENSP00000293748.6:p.Ser124AlafsTer?
ENST00000418600.6:c.415del	ENSP00000403636.3:p.Ser139AlafsTer?
ENST00000428982.4:c.238del	ENSP00000412475.2:p.Ser80AlafsTer?
ENST00000449372.6:c.415del	ENSP00000416519.3:p.Ser139AlafsTer?
ENST00000479510.2:n.610del
ENST00000628646.2:c.415del	ENSP00000486431.1:p.Ser139AlafsTer?
ENST00000629380.2:c.415del	ENSP00000486463.1:p.Ser139AlafsTer?
NM_006772.2:c.415del	NP_006763.2:p.Ser139AlafsTer?
NM_001130066.1:c.415del	NP_001123538.1:p.Ser139AlafsTer?
NM_001130066.2:c.415del	NP_001123538.1:p.Ser139AlafsTer?
NM_006772.3:c.415del MANE Select	NP_006763.2:p.Ser139AlafsTer?