Canonical Allele Identifier: CA1620016828

Gene: SYNGAP1 SYNGAP1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33446596_33446597delinsAT , CM000668.2:g.33446596_33446597delinsAT	GRCh38
NC_000006.11:g.33414373_33414374delinsAT , CM000668.1:g.33414373_33414374delinsAT	GRCh37
NC_000006.10:g.33522351_33522352delinsAT	NCBI36
NG_016137.1:g.31527_31528delinsAT
NG_016137.2:g.31527_31528delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.3346_3347delinsAT (SYNGAP1)	ENSP00000507403.1:p.Ile1116=
ENST00000418600.7:c.3604_3605delinsAT (SYNGAP1)	ENSP00000403636.3:p.Ile1202=
ENST00000449372.7:c.3556_3557delinsAT (SYNGAP1)	ENSP00000416519.4:p.Ile1186=
ENST00000629380.3:c.3604_3605delinsAT (SYNGAP1)	ENSP00000486463.1:p.Ile1202=
ENST00000644458.1:c.3604_3605delinsAT (SYNGAP1)	ENSP00000495541.1:p.Ile1202=
ENST00000645250.1:c.3427_3428delinsAT (SYNGAP1)	ENSP00000494861.1:p.Ile1143=
ENST00000646630.1:c.3604_3605delinsAT (SYNGAP1) MANE Select	ENSP00000496007.1:p.Ile1202=
ENST00000293748.9:c.3559_3560delinsAT (SYNGAP1)	ENSP00000293748.6:p.Ile1187=
ENST00000418600.6:c.3604_3605delinsAT (SYNGAP1)	ENSP00000403636.3:p.Ile1202=
ENST00000428982.4:c.3427_3428delinsAT (SYNGAP1)	ENSP00000412475.2:p.Ile1143=
ENST00000449372.6:c.3556_3557delinsAT (SYNGAP1)	ENSP00000416519.3:p.Ile1186=
ENST00000628646.2:c.3604_3605delinsAT (SYNGAP1)	ENSP00000486431.1:p.Ile1202=
ENST00000629380.2:c.3604_3605delinsAT (SYNGAP1)	ENSP00000486463.1:p.Ile1202=
NM_006772.2:c.3604_3605delinsAT (SYNGAP1)	NP_006763.2:p.Ile1202=
NM_001130066.1:c.3556_3557delinsAT (SYNGAP1)	NP_001123538.1:p.Ile1186=
NM_001130066.2:c.3556_3557delinsAT (SYNGAP1)	NP_001123538.1:p.Ile1186=
NM_006772.3:c.3604_3605delinsAT (SYNGAP1) MANE Select	NP_006763.2:p.Ile1202=
NR_174954.1:n.329+9_329+10delinsAT (SYNGAP1-AS1)