Canonical Allele Identifier: CA645559131

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• COSMIC: COSM3733599 ; COSM3733600

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33446755_33446757del , CM000668.2:g.33446755_33446757del	GRCh38
NC_000006.11:g.33414532_33414534del , CM000668.1:g.33414532_33414534del	GRCh37
NC_000006.10:g.33522510_33522512del	NCBI36
NG_016137.1:g.31686_31688del
NG_016137.2:g.31686_31688del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.3505_3507del (SYNGAP1)	ENSP00000507403.1:p.Lys1169del
ENST00000418600.7:c.3763_3765del (SYNGAP1)	ENSP00000403636.3:p.Lys1255del
ENST00000449372.7:c.3715_3717del (SYNGAP1)	ENSP00000416519.4:p.Lys1239del
ENST00000629380.3:c.3763_3765del (SYNGAP1)	ENSP00000486463.1:p.Lys1255del
ENST00000636436.1:n.45_47del (SYNGAP1)
ENST00000644458.1:c.3763_3765del (SYNGAP1)	ENSP00000495541.1:p.Lys1255del
ENST00000645250.1:c.3586_3588del (SYNGAP1)	ENSP00000494861.1:p.Lys1196del
ENST00000646630.1:c.3763_3765del (SYNGAP1) MANE Select	ENSP00000496007.1:p.Lys1255del
ENST00000293748.9:c.3718_3720del (SYNGAP1)	ENSP00000293748.6:p.Lys1240del
ENST00000418600.6:c.3763_3765del (SYNGAP1)	ENSP00000403636.3:p.Lys1255del
ENST00000428982.4:c.3586_3588del (SYNGAP1)	ENSP00000412475.2:p.Lys1196del
ENST00000449372.6:c.3715_3717del (SYNGAP1)	ENSP00000416519.3:p.Lys1239del
ENST00000470232.1:n.45_47del (SYNGAP1)
ENST00000628646.2:c.3763_3765del (SYNGAP1)	ENSP00000486431.1:p.Lys1255del
ENST00000629380.2:c.3763_3765del (SYNGAP1)	ENSP00000486463.1:p.Lys1255del
NM_006772.2:c.3763_3765del (SYNGAP1)	NP_006763.2:p.Lys1255del
NM_001130066.1:c.3715_3717del (SYNGAP1)	NP_001123538.1:p.Lys1239del
NM_001130066.2:c.3715_3717del (SYNGAP1)	NP_001123538.1:p.Lys1239del
NM_006772.3:c.3763_3765del (SYNGAP1) MANE Select	NP_006763.2:p.Lys1255del
NR_174954.1:n.180_182del (SYNGAP1-AS1)