Canonical Allele Identifier: CA1620016644
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33446407_33446415delinsCAAAAGCAG , CM000668.2:g.33446407_33446415delinsCAAAAGCAG GRCh38
NC_000006.11:g.33414184_33414192delinsCAAAAGCAG , CM000668.1:g.33414184_33414192delinsCAAAAGCAG GRCh37
NC_000006.10:g.33522162_33522170delinsCAAAAGCAG NCBI36
NG_016137.1:g.31338_31346delinsCAAAAGCAG
NG_016137.2:g.31338_31346delinsCAAAAGCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682587.1:c.3325-168_3325-160delinsCAAAAGCAG (SYNGAP1) ENSP00000507403.1:n.3325-168_3325-160delinsCAAAAGCAG
ENST00000418600.7:c.3583-168_3583-160delinsCAAAAGCAG (SYNGAP1) ENSP00000403636.3:n.3583-168_3583-160delinsCAAAAGCAG
ENST00000449372.7:c.3541-174_3541-166delinsCAAAAGCAG (SYNGAP1) ENSP00000416519.4:n.3541-174_3541-166delinsCAAAAGCAG
ENST00000629380.3:c.3583-168_3583-160delinsCAAAAGCAG (SYNGAP1) ENSP00000486463.1:n.3583-168_3583-160delinsCAAAAGCAG
ENST00000644458.1:c.3583-168_3583-160delinsCAAAAGCAG (SYNGAP1) ENSP00000495541.1:n.3583-168_3583-160delinsCAAAAGCAG
ENST00000645250.1:c.3406-168_3406-160delinsCAAAAGCAG (SYNGAP1) ENSP00000494861.1:n.3406-168_3406-160delinsCAAAAGCAG
ENST00000646630.1:c.3583-168_3583-160delinsCAAAAGCAG (SYNGAP1) MANE Select ENSP00000496007.1:n.3583-168_3583-160delinsCAAAAGCAG
ENST00000293748.9:c.3538-168_3538-160delinsCAAAAGCAG (SYNGAP1) ENSP00000293748.6:n.3538-168_3538-160delinsCAAAAGCAG
ENST00000418600.6:c.3583-168_3583-160delinsCAAAAGCAG (SYNGAP1) ENSP00000403636.3:n.3583-168_3583-160delinsCAAAAGCAG
ENST00000428982.4:c.3406-168_3406-160delinsCAAAAGCAG (SYNGAP1) ENSP00000412475.2:n.3406-168_3406-160delinsCAAAAGCAG
ENST00000449372.6:c.3541-174_3541-166delinsCAAAAGCAG (SYNGAP1) ENSP00000416519.3:n.3541-174_3541-166delinsCAAAAGCAG
ENST00000628646.2:c.3583-168_3583-160delinsCAAAAGCAG (SYNGAP1) ENSP00000486431.1:n.3583-168_3583-160delinsCAAAAGCAG
ENST00000629380.2:c.3583-168_3583-160delinsCAAAAGCAG (SYNGAP1) ENSP00000486463.1:n.3583-168_3583-160delinsCAAAAGCAG
NM_006772.2:c.3583-168_3583-160delinsCAAAAGCAG (SYNGAP1) NP_006763.2:n.3583-168_3583-160delinsCAAAAGCAG
NM_001130066.1:c.3541-174_3541-166delinsCAAAAGCAG (SYNGAP1) NP_001123538.1:n.3541-174_3541-166delinsCAAAAGCAG
NM_001130066.2:c.3541-174_3541-166delinsCAAAAGCAG (SYNGAP1) NP_001123538.1:n.3541-174_3541-166delinsCAAAAGCAG
NM_006772.3:c.3583-168_3583-160delinsCAAAAGCAG (SYNGAP1) MANE Select NP_006763.2:n.3583-168_3583-160delinsCAAAAGCAG
NR_174954.1:n.329+191_329+199delinsCTGCTTTTG (SYNGAP1-AS1)