Canonical Allele Identifier: CA645559665

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• COSMIC: COSM4519005 ; COSM4519006

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33437819_33437820delinsTT , CM000668.2:g.33437819_33437820delinsTT	GRCh38
NC_000006.11:g.33405596_33405597delinsTT , CM000668.1:g.33405596_33405597delinsTT	GRCh37
NC_000006.10:g.33513574_33513575delinsTT	NCBI36
NG_016137.1:g.22750_22751delinsTT
NG_016137.2:g.22750_22751delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.656_657delinsTT (SYNGAP1)	ENSP00000507403.1:p.Thr219Ile
ENST00000418600.7:c.914_915delinsTT (SYNGAP1)	ENSP00000403636.3:p.Thr305Ile
ENST00000449372.7:c.914_915delinsTT (SYNGAP1)	ENSP00000416519.4:p.Thr305Ile
ENST00000629380.3:c.914_915delinsTT (SYNGAP1)	ENSP00000486463.1:p.Thr305Ile
ENST00000638142.2:c.914_915delinsTT (SYNGAP1)	ENSP00000490803.1:p.Thr305Ile
ENST00000644458.1:c.914_915delinsTT (SYNGAP1)	ENSP00000495541.1:p.Thr305Ile
ENST00000645250.1:c.737_738delinsTT (SYNGAP1)	ENSP00000494861.1:p.Thr246Ile
ENST00000646630.1:c.914_915delinsTT (SYNGAP1) MANE Select	ENSP00000496007.1:p.Thr305Ile
ENST00000293748.9:c.869_870delinsTT (SYNGAP1)	ENSP00000293748.6:p.Thr290Ile
ENST00000418600.6:c.914_915delinsTT (SYNGAP1)	ENSP00000403636.3:p.Thr305Ile
ENST00000428982.4:c.737_738delinsTT (SYNGAP1)	ENSP00000412475.2:p.Thr246Ile
ENST00000449372.6:c.914_915delinsTT (SYNGAP1)	ENSP00000416519.3:p.Thr305Ile
ENST00000479510.2:n.1109_1110delinsTT (SYNGAP1)
ENST00000628646.2:c.914_915delinsTT (SYNGAP1)	ENSP00000486431.1:p.Thr305Ile
ENST00000629380.2:c.914_915delinsTT (SYNGAP1)	ENSP00000486463.1:p.Thr305Ile
NM_006772.2:c.914_915delinsTT (SYNGAP1)	NP_006763.2:p.Thr305Ile
NM_001130066.1:c.914_915delinsTT (SYNGAP1)	NP_001123538.1:p.Thr305Ile
NM_001130066.2:c.914_915delinsTT (SYNGAP1)	NP_001123538.1:p.Thr305Ile
NM_006772.3:c.914_915delinsTT (SYNGAP1) MANE Select	NP_006763.2:p.Thr305Ile
NR_174954.1:n.330-339_330-338delinsAA (SYNGAP1-AS1)