Canonical Allele Identifier: CA16612030

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 411566
• ClinVar RCV Id: RCV000457705 ; RCV000482994 ; RCV004022880
• dbSNP Id: rs1060503378
• MyVariant Identifiers: chr6:g.33405849_33405850del (hg19) ; chr6:g.33438072_33438073del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33438072_33438073del , CM000668.2:g.33438072_33438073del	GRCh38
NC_000006.11:g.33405849_33405850del , CM000668.1:g.33405849_33405850del	GRCh37
NC_000006.10:g.33513827_33513828del	NCBI36
NG_016137.1:g.23003_23004del
NG_016137.2:g.23003_23004del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.909_910del (SYNGAP1)	ENSP00000507403.1:p.Gly305GlnfsTer27
ENST00000418600.7:c.1167_1168del (SYNGAP1)	ENSP00000403636.3:p.Gly391GlnfsTer27
ENST00000449372.7:c.1167_1168del (SYNGAP1)	ENSP00000416519.4:p.Gly391GlnfsTer27
ENST00000629380.3:c.1167_1168del (SYNGAP1)	ENSP00000486463.1:p.Gly391GlnfsTer27
ENST00000638142.2:c.1167_1168del (SYNGAP1)	ENSP00000490803.1:p.Gly391GlnfsTer27
ENST00000644458.1:c.1167_1168del (SYNGAP1)	ENSP00000495541.1:p.Gly391GlnfsTer27
ENST00000645250.1:c.990_991del (SYNGAP1)	ENSP00000494861.1:p.Gly332GlnfsTer27
ENST00000646630.1:c.1167_1168del (SYNGAP1) MANE Select	ENSP00000496007.1:p.Gly391GlnfsTer27
ENST00000293748.9:c.1122_1123del (SYNGAP1)	ENSP00000293748.6:p.Gly376GlnfsTer27
ENST00000418600.6:c.1167_1168del (SYNGAP1)	ENSP00000403636.3:p.Gly391GlnfsTer27
ENST00000428982.4:c.990_991del (SYNGAP1)	ENSP00000412475.2:p.Gly332GlnfsTer27
ENST00000449372.6:c.1167_1168del (SYNGAP1)	ENSP00000416519.3:p.Gly391GlnfsTer27
ENST00000479510.2:n.1362_1363del (SYNGAP1)
ENST00000628646.2:c.1167_1168del (SYNGAP1)	ENSP00000486431.1:p.Gly391GlnfsTer27
ENST00000629380.2:c.1167_1168del (SYNGAP1)	ENSP00000486463.1:p.Gly391GlnfsTer27
NM_006772.2:c.1167_1168del (SYNGAP1)	NP_006763.2:p.Gly391GlnfsTer27
NM_001130066.1:c.1167_1168del (SYNGAP1)	NP_001123538.1:p.Gly391GlnfsTer27
NM_001130066.2:c.1167_1168del (SYNGAP1)	NP_001123538.1:p.Gly391GlnfsTer27
NM_006772.3:c.1167_1168del (SYNGAP1) MANE Select	NP_006763.2:p.Gly391GlnfsTer27
NR_174954.1:n.330-592_330-591del (SYNGAP1-AS1)