Canonical Allele Identifier: CA16618283
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 422836
ClinVar RCV Id: RCV000481505
dbSNP Id: rs1064796033
MyVariant Identifiers: chr6:g.33411556del (hg19) chr6:g.33443779del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33443779del , CM000668.2:g.33443779del GRCh38
NC_000006.11:g.33411556del , CM000668.1:g.33411556del GRCh37
NC_000006.10:g.33519534del NCBI36
NG_016137.1:g.28710del
NG_016137.2:g.28710del

Transcript Alleles

HGVS Amino-acid change
ENST00000682587.1:c.2969del (SYNGAP1) ENSP00000507403.1:p.Leu990Ter
ENST00000418600.7:c.3227del (SYNGAP1) ENSP00000403636.3:p.Leu1076Ter
ENST00000449372.7:c.3185del (SYNGAP1) ENSP00000416519.4:p.Leu1062Ter
ENST00000629380.3:c.3227del (SYNGAP1) ENSP00000486463.1:p.Leu1076Ter
ENST00000644458.1:c.3227del (SYNGAP1) ENSP00000495541.1:p.Leu1076Ter
ENST00000645250.1:c.3050del (SYNGAP1) ENSP00000494861.1:p.Leu1017Ter
ENST00000646630.1:c.3227del (SYNGAP1) MANE Select ENSP00000496007.1:p.Leu1076Ter
ENST00000293748.9:c.3182del (SYNGAP1) ENSP00000293748.6:p.Leu1061Ter
ENST00000418600.6:c.3227del (SYNGAP1) ENSP00000403636.3:p.Leu1076Ter
ENST00000428982.4:c.3050del (SYNGAP1) ENSP00000412475.2:p.Leu1017Ter
ENST00000449372.6:c.3185del (SYNGAP1) ENSP00000416519.3:p.Leu1062Ter
ENST00000628646.2:c.3227del (SYNGAP1) ENSP00000486431.1:p.Leu1076Ter
ENST00000629380.2:c.3227del (SYNGAP1) ENSP00000486463.1:p.Leu1076Ter
NM_006772.2:c.3227del (SYNGAP1) NP_006763.2:p.Leu1076Ter
NM_001130066.1:c.3185del (SYNGAP1) NP_001123538.1:p.Leu1062Ter
NM_001130066.2:c.3185del (SYNGAP1) NP_001123538.1:p.Leu1062Ter
NM_006772.3:c.3227del (SYNGAP1) MANE Select NP_006763.2:p.Leu1076Ter
NR_174954.1:n.329+2828del (SYNGAP1-AS1)
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