Canonical Allele Identifier: CA2695206222
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33443485del , CM000668.2:g.33443485del GRCh38
NC_000006.11:g.33411262del , CM000668.1:g.33411262del GRCh37
NC_000006.10:g.33519240del NCBI36
NG_016137.1:g.28416del
NG_016137.2:g.28416del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682587.1:c.2675del (SYNGAP1) ENSP00000507403.1:p.Pro892HisfsTer?
ENST00000418600.7:c.2933del (SYNGAP1) ENSP00000403636.3:p.Pro978HisfsTer?
ENST00000449372.7:c.2891del (SYNGAP1) ENSP00000416519.4:p.Pro964HisfsTer?
ENST00000629380.3:c.2933del (SYNGAP1) ENSP00000486463.1:p.Pro978HisfsTer?
ENST00000644458.1:c.2933del (SYNGAP1) ENSP00000495541.1:p.Pro978HisfsTer?
ENST00000645250.1:c.2756del (SYNGAP1) ENSP00000494861.1:p.Pro919HisfsTer?
ENST00000646630.1:c.2933del (SYNGAP1) MANE Select ENSP00000496007.1:p.Pro978HisfsTer?
ENST00000293748.9:c.2888del (SYNGAP1) ENSP00000293748.6:p.Pro963HisfsTer?
ENST00000418600.6:c.2933del (SYNGAP1) ENSP00000403636.3:p.Pro978HisfsTer?
ENST00000428982.4:c.2756del (SYNGAP1) ENSP00000412475.2:p.Pro919HisfsTer?
ENST00000449372.6:c.2891del (SYNGAP1) ENSP00000416519.3:p.Pro964HisfsTer?
ENST00000628646.2:c.2933del (SYNGAP1) ENSP00000486431.1:p.Pro978HisfsTer?
ENST00000629380.2:c.2933del (SYNGAP1) ENSP00000486463.1:p.Pro978HisfsTer?
NM_006772.2:c.2933del (SYNGAP1) NP_006763.2:p.Pro978HisfsTer?
NM_001130066.1:c.2891del (SYNGAP1) NP_001123538.1:p.Pro964HisfsTer?
NM_001130066.2:c.2891del (SYNGAP1) NP_001123538.1:p.Pro964HisfsTer?
NM_006772.3:c.2933del (SYNGAP1) MANE Select NP_006763.2:p.Pro978HisfsTer?
NR_174954.1:n.329+3124del (SYNGAP1-AS1)