Canonical Allele Identifier: CA2678274021
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI

Linked Data

gnomAD v4: 6-33437886-G-GCGC
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33437886_33437887insCGC , CM000668.2:g.33437886_33437887insCGC GRCh38
NC_000006.11:g.33405663_33405664insCGC , CM000668.1:g.33405663_33405664insCGC GRCh37
NC_000006.10:g.33513641_33513642insCGC NCBI36
NG_016137.1:g.22817_22818insCGC
NG_016137.2:g.22817_22818insCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682587.1:c.723_724insCGC (SYNGAP1) ENSP00000507403.1:p.Leu241_Tyr242insArg
ENST00000418600.7:c.981_982insCGC (SYNGAP1) ENSP00000403636.3:p.Leu327_Tyr328insArg
ENST00000449372.7:c.981_982insCGC (SYNGAP1) ENSP00000416519.4:p.Leu327_Tyr328insArg
ENST00000629380.3:c.981_982insCGC (SYNGAP1) ENSP00000486463.1:p.Leu327_Tyr328insArg
ENST00000638142.2:c.981_982insCGC (SYNGAP1) ENSP00000490803.1:p.Leu327_Tyr328insArg
ENST00000644458.1:c.981_982insCGC (SYNGAP1) ENSP00000495541.1:p.Leu327_Tyr328insArg
ENST00000645250.1:c.804_805insCGC (SYNGAP1) ENSP00000494861.1:p.Leu268_Tyr269insArg
ENST00000646630.1:c.981_982insCGC (SYNGAP1) MANE Select ENSP00000496007.1:p.Leu327_Tyr328insArg
ENST00000293748.9:c.936_937insCGC (SYNGAP1) ENSP00000293748.6:p.Leu312_Tyr313insArg
ENST00000418600.6:c.981_982insCGC (SYNGAP1) ENSP00000403636.3:p.Leu327_Tyr328insArg
ENST00000428982.4:c.804_805insCGC (SYNGAP1) ENSP00000412475.2:p.Leu268_Tyr269insArg
ENST00000449372.6:c.981_982insCGC (SYNGAP1) ENSP00000416519.3:p.Leu327_Tyr328insArg
ENST00000479510.2:n.1176_1177insCGC (SYNGAP1)
ENST00000628646.2:c.981_982insCGC (SYNGAP1) ENSP00000486431.1:p.Leu327_Tyr328insArg
ENST00000629380.2:c.981_982insCGC (SYNGAP1) ENSP00000486463.1:p.Leu327_Tyr328insArg
NM_006772.2:c.981_982insCGC (SYNGAP1) NP_006763.2:p.Leu327_Tyr328insArg
NM_001130066.1:c.981_982insCGC (SYNGAP1) NP_001123538.1:p.Leu327_Tyr328insArg
NM_001130066.2:c.981_982insCGC (SYNGAP1) NP_001123538.1:p.Leu327_Tyr328insArg
NM_006772.3:c.981_982insCGC (SYNGAP1) MANE Select NP_006763.2:p.Leu327_Tyr328insArg
NR_174954.1:n.330-406_330-405insGCG (SYNGAP1-AS1)
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