Canonical Allele Identifier: CA16043416
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373952
ClinVar RCV Id: RCV000414895 RCV001198243
dbSNP Id: rs1057518796
MyVariant Identifiers: chr6:g.33411529del (hg19) chr6:g.33443752del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33443752del , CM000668.2:g.33443752del GRCh38
NC_000006.11:g.33411529del , CM000668.1:g.33411529del GRCh37
NC_000006.10:g.33519507del NCBI36
NG_016137.1:g.28683del
NG_016137.2:g.28683del

Transcript Alleles

HGVS Amino-acid change
ENST00000682587.1:c.2942del (SYNGAP1) ENSP00000507403.1:p.Pro981HisfsTer10
ENST00000418600.7:c.3200del (SYNGAP1) ENSP00000403636.3:p.Pro1067HisfsTer10
ENST00000449372.7:c.3158del (SYNGAP1) ENSP00000416519.4:p.Pro1053HisfsTer10
ENST00000629380.3:c.3200del (SYNGAP1) ENSP00000486463.1:p.Pro1067HisfsTer10
ENST00000644458.1:c.3200del (SYNGAP1) ENSP00000495541.1:p.Pro1067HisfsTer10
ENST00000645250.1:c.3023del (SYNGAP1) ENSP00000494861.1:p.Pro1008HisfsTer10
ENST00000646630.1:c.3200del (SYNGAP1) MANE Select ENSP00000496007.1:p.Pro1067HisfsTer10
ENST00000293748.9:c.3155del (SYNGAP1) ENSP00000293748.6:p.Pro1052HisfsTer10
ENST00000418600.6:c.3200del (SYNGAP1) ENSP00000403636.3:p.Pro1067HisfsTer10
ENST00000428982.4:c.3023del (SYNGAP1) ENSP00000412475.2:p.Pro1008HisfsTer10
ENST00000449372.6:c.3158del (SYNGAP1) ENSP00000416519.3:p.Pro1053HisfsTer10
ENST00000628646.2:c.3200del (SYNGAP1) ENSP00000486431.1:p.Pro1067HisfsTer10
ENST00000629380.2:c.3200del (SYNGAP1) ENSP00000486463.1:p.Pro1067HisfsTer10
NM_006772.2:c.3200del (SYNGAP1) NP_006763.2:p.Pro1067HisfsTer10
NM_001130066.1:c.3158del (SYNGAP1) NP_001123538.1:p.Pro1053HisfsTer10
NM_001130066.2:c.3158del (SYNGAP1) NP_001123538.1:p.Pro1053HisfsTer10
NM_006772.3:c.3200del (SYNGAP1) MANE Select NP_006763.2:p.Pro1067HisfsTer10
NR_174954.1:n.329+2855del (SYNGAP1-AS1)
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