Canonical Allele Identifier: CA2697553290

Gene: SYNGAP1 SYNGAP1-AS1

Linked Data

• ClinVar Variation Id: 2766143
• ClinVar RCV Id: RCV003507825

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33443255_33443267del , CM000668.2:g.33443255_33443267del	GRCh38
NC_000006.11:g.33411032_33411044del , CM000668.1:g.33411032_33411044del	GRCh37
NC_000006.10:g.33519010_33519022del	NCBI36
NG_016137.1:g.28186_28198del
NG_016137.2:g.28186_28198del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682587.1:c.2445_2457del (SYNGAP1)	ENSP00000507403.1:p.Ala816SerfsTer?
ENST00000418600.7:c.2703_2715del (SYNGAP1)	ENSP00000403636.3:p.Ala902SerfsTer?
ENST00000449372.7:c.2661_2673del (SYNGAP1)	ENSP00000416519.4:p.Ala888SerfsTer?
ENST00000629380.3:c.2703_2715del (SYNGAP1)	ENSP00000486463.1:p.Ala902SerfsTer?
ENST00000644458.1:c.2703_2715del (SYNGAP1)	ENSP00000495541.1:p.Ala902SerfsTer?
ENST00000645250.1:c.2526_2538del (SYNGAP1)	ENSP00000494861.1:p.Ala843SerfsTer?
ENST00000646630.1:c.2703_2715del (SYNGAP1) MANE Select	ENSP00000496007.1:p.Ala902SerfsTer?
ENST00000293748.9:c.2658_2670del (SYNGAP1)	ENSP00000293748.6:p.Ala887SerfsTer?
ENST00000418600.6:c.2703_2715del (SYNGAP1)	ENSP00000403636.3:p.Ala902SerfsTer?
ENST00000428982.4:c.2526_2538del (SYNGAP1)	ENSP00000412475.2:p.Ala843SerfsTer?
ENST00000449372.6:c.2661_2673del (SYNGAP1)	ENSP00000416519.3:p.Ala888SerfsTer?
ENST00000628646.2:c.2703_2715del (SYNGAP1)	ENSP00000486431.1:p.Ala902SerfsTer?
ENST00000629380.2:c.2703_2715del (SYNGAP1)	ENSP00000486463.1:p.Ala902SerfsTer?
NM_006772.2:c.2703_2715del (SYNGAP1)	NP_006763.2:p.Ala902SerfsTer?
NM_001130066.1:c.2661_2673del (SYNGAP1)	NP_001123538.1:p.Ala888SerfsTer?
NM_001130066.2:c.2661_2673del (SYNGAP1)	NP_001123538.1:p.Ala888SerfsTer?
NM_006772.3:c.2703_2715del (SYNGAP1) MANE Select	NP_006763.2:p.Ala902SerfsTer?
NR_174954.1:n.329+3341_329+3353del (SYNGAP1-AS1)