Canonical Allele Identifier: CA2678275437

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• gnomAD v4: 6-33446908-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33446913_33446915del , CM000668.2:g.33446913_33446915del	GRCh38
NC_000006.11:g.33414690_33414692del , CM000668.1:g.33414690_33414692del	GRCh37
NC_000006.10:g.33522668_33522670del	NCBI36
NG_016137.1:g.31844_31846del
NG_016137.2:g.31844_31846del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.3536+127_3536+129del (SYNGAP1)	ENSP00000507403.1:n.3536+127_3536+129del
ENST00000418600.7:c.3794+127_3794+129del (SYNGAP1)	ENSP00000403636.3:n.3794+127_3794+129del
ENST00000449372.7:c.3746+127_3746+129del (SYNGAP1)	ENSP00000416519.4:n.3746+127_3746+129del
ENST00000629380.3:c.3794+127_3794+129del (SYNGAP1)	ENSP00000486463.1:n.3794+127_3794+129del
ENST00000636436.1:n.76+127_76+129del (SYNGAP1)
ENST00000644458.1:c.3794+127_3794+129del (SYNGAP1)	ENSP00000495541.1:n.3794+127_3794+129del
ENST00000645250.1:c.3617+127_3617+129del (SYNGAP1)	ENSP00000494861.1:n.3617+127_3617+129del
ENST00000646630.1:c.3794+127_3794+129del (SYNGAP1) MANE Select	ENSP00000496007.1:n.3794+127_3794+129del
ENST00000293748.9:c.3749+127_3749+129del (SYNGAP1)	ENSP00000293748.6:n.3749+127_3749+129del
ENST00000418600.6:c.3794+127_3794+129del (SYNGAP1)	ENSP00000403636.3:n.3794+127_3794+129del
ENST00000428982.4:c.3617+127_3617+129del (SYNGAP1)	ENSP00000412475.2:n.3617+127_3617+129del
ENST00000449372.6:c.3746+127_3746+129del (SYNGAP1)	ENSP00000416519.3:n.3746+127_3746+129del
ENST00000470232.1:n.76+127_76+129del (SYNGAP1)
ENST00000628646.2:c.3794+127_3794+129del (SYNGAP1)	ENSP00000486431.1:n.3794+127_3794+129del
ENST00000629380.2:c.3794+127_3794+129del (SYNGAP1)	ENSP00000486463.1:n.3794+127_3794+129del
NM_006772.2:c.3794+127_3794+129del (SYNGAP1)	NP_006763.2:n.3794+127_3794+129del
NM_001130066.1:c.3746+127_3746+129del (SYNGAP1)	NP_001123538.1:n.3746+127_3746+129del
NM_001130066.2:c.3746+127_3746+129del (SYNGAP1)	NP_001123538.1:n.3746+127_3746+129del
NM_006772.3:c.3794+127_3794+129del (SYNGAP1) MANE Select	NP_006763.2:n.3794+127_3794+129del
NR_174954.1:n.137-113_137-111del (SYNGAP1-AS1)