Canonical Allele Identifier: CA16042668

Gene: SYNGAP1 MIR5004 SYNGAP1-AS1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33438425del , CM000668.2:g.33438425del	GRCh38
NC_000006.11:g.33406202del , CM000668.1:g.33406202del	GRCh37
NC_000006.10:g.33514180del	NCBI36
NG_016137.1:g.23356del
NG_016137.2:g.23356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.1135del (SYNGAP1)	ENSP00000507403.1:p.Leu379PhefsTer9
ENST00000418600.7:c.1393del (SYNGAP1)	ENSP00000403636.3:p.Leu465PhefsTer9
ENST00000449372.7:c.1393del (SYNGAP1)	ENSP00000416519.4:p.Leu465PhefsTer9
ENST00000629380.3:c.1393del (SYNGAP1)	ENSP00000486463.1:p.Leu465PhefsTer9
ENST00000638142.2:c.1393del (SYNGAP1)	ENSP00000490803.1:p.Leu465PhefsTer9
ENST00000644458.1:c.1393del (SYNGAP1)	ENSP00000495541.1:p.Leu465PhefsTer9
ENST00000645250.1:c.1216del (SYNGAP1)	ENSP00000494861.1:p.Leu406PhefsTer9
ENST00000646630.1:c.1393del (SYNGAP1) MANE Select	ENSP00000496007.1:p.Leu465PhefsTer9
ENST00000293748.9:c.1348del (SYNGAP1)	ENSP00000293748.6:p.Leu450PhefsTer9
ENST00000418600.6:c.1393del (SYNGAP1)	ENSP00000403636.3:p.Leu465PhefsTer9
ENST00000428982.4:c.1216del (SYNGAP1)	ENSP00000412475.2:p.Leu406PhefsTer9
ENST00000449372.6:c.1393del (SYNGAP1)	ENSP00000416519.3:p.Leu465PhefsTer9
ENST00000479510.2:n.1588del (SYNGAP1)
ENST00000628646.2:c.1393del (SYNGAP1)	ENSP00000486431.1:p.Leu465PhefsTer9
ENST00000629380.2:c.1393del (SYNGAP1)	ENSP00000486463.1:p.Leu465PhefsTer9
NM_006772.2:c.1393del (SYNGAP1)	NP_006763.2:p.Leu465PhefsTer9
NR_049800.1:n.95del (MIR5004)
NM_001130066.1:c.1393del (SYNGAP1)	NP_001123538.1:p.Leu465PhefsTer9
NM_001130066.2:c.1393del (SYNGAP1)	NP_001123538.1:p.Leu465PhefsTer9
NM_006772.3:c.1393del (SYNGAP1) MANE Select	NP_006763.2:p.Leu465PhefsTer9
NR_174954.1:n.330-943del (SYNGAP1-AS1)