Canonical Allele Identifier: CA2839931395
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33441529dup , CM000668.2:g.33441529dup GRCh38
NC_000006.11:g.33409306dup , CM000668.1:g.33409306dup GRCh37
NC_000006.10:g.33517284dup NCBI36
NG_016137.1:g.26460dup
NG_016137.2:g.26460dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682587.1:c.1858-52dup (SYNGAP1) ENSP00000507403.1:n.1858-52dup
ENST00000418600.7:c.2116-52dup (SYNGAP1) ENSP00000403636.3:n.2116-52dup
ENST00000449372.7:c.2116-52dup (SYNGAP1) ENSP00000416519.4:n.2116-52dup
ENST00000629380.3:c.2116-52dup (SYNGAP1) ENSP00000486463.1:n.2116-52dup
ENST00000636640.1:n.98dup (SYNGAP1)
ENST00000638142.2:c.*513-52dup (SYNGAP1) ENSP00000490803.1:n.*513-52dup
ENST00000644458.1:c.2116-52dup (SYNGAP1) ENSP00000495541.1:n.2116-52dup
ENST00000645250.1:c.1939-52dup (SYNGAP1) ENSP00000494861.1:n.1939-52dup
ENST00000646630.1:c.2116-52dup (SYNGAP1) MANE Select ENSP00000496007.1:n.2116-52dup
ENST00000293748.9:c.2071-52dup (SYNGAP1) ENSP00000293748.6:n.2071-52dup
ENST00000418600.6:c.2116-52dup (SYNGAP1) ENSP00000403636.3:n.2116-52dup
ENST00000428982.4:c.1939-52dup (SYNGAP1) ENSP00000412475.2:n.1939-52dup
ENST00000449372.6:c.2116-52dup (SYNGAP1) ENSP00000416519.3:n.2116-52dup
ENST00000628646.2:c.2116-52dup (SYNGAP1) ENSP00000486431.1:n.2116-52dup
ENST00000629380.2:c.2116-52dup (SYNGAP1) ENSP00000486463.1:n.2116-52dup
NM_006772.2:c.2116-52dup (SYNGAP1) NP_006763.2:n.2116-52dup
NM_001130066.1:c.2116-52dup (SYNGAP1) NP_001123538.1:n.2116-52dup
NM_001130066.2:c.2116-52dup (SYNGAP1) NP_001123538.1:n.2116-52dup
NM_006772.3:c.2116-52dup (SYNGAP1) MANE Select NP_006763.2:n.2116-52dup
NR_174954.1:n.330-4047dup (SYNGAP1-AS1)