Canonical Allele Identifier: CA913110434

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• MyVariant Identifiers: chr6:g.33410889_33410906del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443112_33443129del , CM000668.2:g.33443112_33443129del	GRCh38
NC_000006.11:g.33410889_33410906del , CM000668.1:g.33410889_33410906del	GRCh37
NC_000006.10:g.33518867_33518884del	NCBI36
NG_016137.1:g.28043_28060del
NG_016137.2:g.28043_28060del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2302_2319del (SYNGAP1)	ENSP00000507403.1:p.Arg768_Ser773del
ENST00000418600.7:c.2560_2577del (SYNGAP1)	ENSP00000403636.3:p.Arg854_Ser859del
ENST00000449372.7:c.2518_2535del (SYNGAP1)	ENSP00000416519.4:p.Arg840_Ser845del
ENST00000629380.3:c.2560_2577del (SYNGAP1)	ENSP00000486463.1:p.Arg854_Ser859del
ENST00000644458.1:c.2560_2577del (SYNGAP1)	ENSP00000495541.1:p.Arg854_Ser859del
ENST00000645250.1:c.2383_2400del (SYNGAP1)	ENSP00000494861.1:p.Arg795_Ser800del
ENST00000646630.1:c.2560_2577del (SYNGAP1) MANE Select	ENSP00000496007.1:p.Arg854_Ser859del
ENST00000293748.9:c.2515_2532del (SYNGAP1)	ENSP00000293748.6:p.Arg839_Ser844del
ENST00000418600.6:c.2560_2577del (SYNGAP1)	ENSP00000403636.3:p.Arg854_Ser859del
ENST00000428982.4:c.2383_2400del (SYNGAP1)	ENSP00000412475.2:p.Arg795_Ser800del
ENST00000449372.6:c.2518_2535del (SYNGAP1)	ENSP00000416519.3:p.Arg840_Ser845del
ENST00000628646.2:c.2560_2577del (SYNGAP1)	ENSP00000486431.1:p.Arg854_Ser859del
ENST00000629380.2:c.2560_2577del (SYNGAP1)	ENSP00000486463.1:p.Arg854_Ser859del
NM_006772.2:c.2560_2577del (SYNGAP1)	NP_006763.2:p.Arg854_Ser859del
NM_001130066.1:c.2518_2535del (SYNGAP1)	NP_001123538.1:p.Arg840_Ser845del
NM_001130066.2:c.2518_2535del (SYNGAP1)	NP_001123538.1:p.Arg840_Ser845del
NM_006772.3:c.2560_2577del (SYNGAP1) MANE Select	NP_006763.2:p.Arg854_Ser859del
NR_174954.1:n.329+3477_329+3494del (SYNGAP1-AS1)