Canonical Allele Identifier: CA16044383
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375615
ClinVar RCV Id: RCV000417100
dbSNP Id: rs1057519400
MyVariant Identifiers: chr6:g.33408737_33408738del (hg19) chr6:g.33440960_33440961del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33440960_33440961del , CM000668.2:g.33440960_33440961del GRCh38
NC_000006.11:g.33408737_33408738del , CM000668.1:g.33408737_33408738del GRCh37
NC_000006.10:g.33516715_33516716del NCBI36
NG_016137.1:g.25891_25892del
NG_016137.2:g.25891_25892del

Transcript Alleles

HGVS Amino-acid change
ENST00000682587.1:c.1650_1651del (SYNGAP1) ENSP00000507403.1:p.Ser551GlnfsTer14
ENST00000418600.7:c.1908_1909del (SYNGAP1) ENSP00000403636.3:p.Ser637GlnfsTer14
ENST00000449372.7:c.1908_1909del (SYNGAP1) ENSP00000416519.4:p.Ser637GlnfsTer14
ENST00000629380.3:c.1908_1909del (SYNGAP1) ENSP00000486463.1:p.Ser637GlnfsTer14
ENST00000638142.2:c.*305_*306del (SYNGAP1) ENSP00000490803.1:n.*305_*306del
ENST00000644458.1:c.1908_1909del (SYNGAP1) ENSP00000495541.1:p.Ser637GlnfsTer14
ENST00000645250.1:c.1731_1732del (SYNGAP1) ENSP00000494861.1:p.Ser578GlnfsTer14
ENST00000646630.1:c.1908_1909del (SYNGAP1) MANE Select ENSP00000496007.1:p.Ser637GlnfsTer14
ENST00000293748.9:c.1863_1864del (SYNGAP1) ENSP00000293748.6:p.Ser622GlnfsTer14
ENST00000418600.6:c.1908_1909del (SYNGAP1) ENSP00000403636.3:p.Ser637GlnfsTer14
ENST00000428982.4:c.1731_1732del (SYNGAP1) ENSP00000412475.2:p.Ser578GlnfsTer14
ENST00000449372.6:c.1908_1909del (SYNGAP1) ENSP00000416519.3:p.Ser637GlnfsTer14
ENST00000628646.2:c.1908_1909del (SYNGAP1) ENSP00000486431.1:p.Ser637GlnfsTer14
ENST00000629380.2:c.1908_1909del (SYNGAP1) ENSP00000486463.1:p.Ser637GlnfsTer14
NM_006772.2:c.1908_1909del (SYNGAP1) NP_006763.2:p.Ser637GlnfsTer14
NM_001130066.1:c.1908_1909del (SYNGAP1) NP_001123538.1:p.Ser637GlnfsTer14
NM_001130066.2:c.1908_1909del (SYNGAP1) NP_001123538.1:p.Ser637GlnfsTer14
NM_006772.3:c.1908_1909del (SYNGAP1) MANE Select NP_006763.2:p.Ser637GlnfsTer14
NR_174954.1:n.330-3478_330-3477del (SYNGAP1-AS1)
Search 100 bp 5'
Search 100 bp 3'