Canonical Allele Identifier: CA1620014512

Gene: SYNGAP1 SYNGAP1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443140_33443143delinsTGGC , CM000668.2:g.33443140_33443143delinsTGGC	GRCh38
NC_000006.11:g.33410917_33410920delinsTGGC , CM000668.1:g.33410917_33410920delinsTGGC	GRCh37
NC_000006.10:g.33518895_33518898delinsTGGC	NCBI36
NG_016137.1:g.28071_28074delinsTGGC
NG_016137.2:g.28071_28074delinsTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2330_2333delinsTGGC (SYNGAP1)	ENSP00000507403.1:p.Leu777=
ENST00000418600.7:c.2588_2591delinsTGGC (SYNGAP1)	ENSP00000403636.3:p.Leu863=
ENST00000449372.7:c.2546_2549delinsTGGC (SYNGAP1)	ENSP00000416519.4:p.Leu849=
ENST00000629380.3:c.2588_2591delinsTGGC (SYNGAP1)	ENSP00000486463.1:p.Leu863=
ENST00000644458.1:c.2588_2591delinsTGGC (SYNGAP1)	ENSP00000495541.1:p.Leu863=
ENST00000645250.1:c.2411_2414delinsTGGC (SYNGAP1)	ENSP00000494861.1:p.Leu804=
ENST00000646630.1:c.2588_2591delinsTGGC (SYNGAP1) MANE Select	ENSP00000496007.1:p.Leu863=
ENST00000293748.9:c.2543_2546delinsTGGC (SYNGAP1)	ENSP00000293748.6:p.Leu848=
ENST00000418600.6:c.2588_2591delinsTGGC (SYNGAP1)	ENSP00000403636.3:p.Leu863=
ENST00000428982.4:c.2411_2414delinsTGGC (SYNGAP1)	ENSP00000412475.2:p.Leu804=
ENST00000449372.6:c.2546_2549delinsTGGC (SYNGAP1)	ENSP00000416519.3:p.Leu849=
ENST00000628646.2:c.2588_2591delinsTGGC (SYNGAP1)	ENSP00000486431.1:p.Leu863=
ENST00000629380.2:c.2588_2591delinsTGGC (SYNGAP1)	ENSP00000486463.1:p.Leu863=
NM_006772.2:c.2588_2591delinsTGGC (SYNGAP1)	NP_006763.2:p.Leu863=
NM_001130066.1:c.2546_2549delinsTGGC (SYNGAP1)	NP_001123538.1:p.Leu849=
NM_001130066.2:c.2546_2549delinsTGGC (SYNGAP1)	NP_001123538.1:p.Leu849=
NM_006772.3:c.2588_2591delinsTGGC (SYNGAP1) MANE Select	NP_006763.2:p.Leu863=
NR_174954.1:n.329+3463_329+3466delinsGCCA (SYNGAP1-AS1)