Canonical Allele Identifier: CA16611959
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411590
ClinVar RCV Id: RCV000476459
dbSNP Id: rs1064792984
MyVariant Identifiers: chr6:g.33409140_33409165del (hg19) chr6:g.33441363_33441388del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33441363_33441388del , CM000668.2:g.33441363_33441388del GRCh38
NC_000006.11:g.33409140_33409165del , CM000668.1:g.33409140_33409165del GRCh37
NC_000006.10:g.33517118_33517143del NCBI36
NG_016137.1:g.26294_26319del
NG_016137.2:g.26294_26319del

Transcript Alleles

HGVS Amino-acid change
ENST00000682587.1:c.1846_1857+14del (SYNGAP1)
ENST00000418600.7:c.2104_2115+14del (SYNGAP1)
ENST00000449372.7:c.2104_2115+14del (SYNGAP1)
ENST00000629380.3:c.2104_2115+14del (SYNGAP1)
ENST00000636193.1:n.56_67+14del (SYNGAP1)
ENST00000636640.1:n.35_46+14del (SYNGAP1)
ENST00000638142.2:c.*501_*512+14del (SYNGAP1)
ENST00000644458.1:c.2104_2115+14del (SYNGAP1)
ENST00000645250.1:c.1927_1938+14del (SYNGAP1)
ENST00000646630.1:c.2104_2115+14del (SYNGAP1)
ENST00000293748.9:c.2059_2070+14del (SYNGAP1)
ENST00000418600.6:c.2104_2115+14del (SYNGAP1)
ENST00000428982.4:c.1927_1938+14del (SYNGAP1)
ENST00000449372.6:c.2104_2115+14del (SYNGAP1)
ENST00000628646.2:c.2104_2115+14del (SYNGAP1)
ENST00000629380.2:c.2104_2115+14del (SYNGAP1)
NM_006772.2:c.2104_2115+14del (SYNGAP1)
NM_001130066.1:c.2104_2115+14del (SYNGAP1)
NM_001130066.2:c.2104_2115+14del (SYNGAP1)
NM_006772.3:c.2104_2115+14del (SYNGAP1)
NR_174954.1:n.330-3904_330-3879del (SYNGAP1-AS1)
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