Canonical Allele Identifier: CA566431021
Gene: SYNGAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1192744
ClinVar RCV Id: RCV001554907
dbSNP Id: rs373773732
gnomAD v2: 6-33402718-C-CAAAAAAAA
gnomAD v3: 6-33434941-C-CAAAAAAAA
gnomAD v4: 6-33434941-C-CAAAAAAAA
MyVariant Identifiers: chr6:g.33402719_33402720insAAAAAAAA (hg19) chr6:g.33402718_33402719insAAAAAAAA (hg19) chr6:g.33434942_33434943insAAAAAAAA (hg38) chr6:g.33434941_33434942insAAAAAAAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33434946_33434953dup , CM000668.2:g.33434946_33434953dup GRCh38
NC_000006.11:g.33402723_33402730dup , CM000668.1:g.33402723_33402730dup GRCh37
NC_000006.10:g.33510701_33510708dup NCBI36
NG_016137.1:g.19877_19884dup
NG_016137.2:g.19877_19884dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682587.1:c.252-206_252-199dup ENSP00000507403.1:n.252-206_252-199dup
ENST00000418600.7:c.510-206_510-199dup ENSP00000403636.3:n.510-206_510-199dup
ENST00000449372.7:c.510-206_510-199dup ENSP00000416519.4:n.510-206_510-199dup
ENST00000629380.3:c.510-206_510-199dup ENSP00000486463.1:n.510-206_510-199dup
ENST00000638142.2:c.510-206_510-199dup ENSP00000490803.1:n.510-206_510-199dup
ENST00000644458.1:c.510-206_510-199dup ENSP00000495541.1:n.510-206_510-199dup
ENST00000645250.1:c.333-206_333-199dup ENSP00000494861.1:n.333-206_333-199dup
ENST00000646630.1:c.510-206_510-199dup MANE Select ENSP00000496007.1:n.510-206_510-199dup
ENST00000293748.9:c.465-206_465-199dup ENSP00000293748.6:n.465-206_465-199dup
ENST00000418600.6:c.510-206_510-199dup ENSP00000403636.3:n.510-206_510-199dup
ENST00000428982.4:c.333-206_333-199dup ENSP00000412475.2:n.333-206_333-199dup
ENST00000449372.6:c.510-206_510-199dup ENSP00000416519.3:n.510-206_510-199dup
ENST00000479510.2:n.705-206_705-199dup
ENST00000628646.2:c.510-206_510-199dup ENSP00000486431.1:n.510-206_510-199dup
ENST00000629380.2:c.510-206_510-199dup ENSP00000486463.1:n.510-206_510-199dup
NM_006772.2:c.510-206_510-199dup NP_006763.2:n.510-206_510-199dup
NM_001130066.1:c.510-206_510-199dup NP_001123538.1:n.510-206_510-199dup
NM_001130066.2:c.510-206_510-199dup NP_001123538.1:n.510-206_510-199dup
NM_006772.3:c.510-206_510-199dup MANE Select NP_006763.2:n.510-206_510-199dup
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