Canonical Allele Identifier: CA354203
Community Standard Title: NM_006772.3(SYNGAP1):c.3788_3794del (p.Ile1263SerfsTer2)
Gene: SYNGAP1 HGNC NCBI
SYNGAP1-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33446780_33446786del , CM000668.2:g.33446780_33446786del GRCh38
NC_000006.11:g.33414557_33414563del , CM000668.1:g.33414557_33414563del GRCh37
NC_000006.10:g.33522535_33522541del NCBI36
NG_016137.1:g.31711_31717del
NG_016137.2:g.31711_31717del

Transcript Alleles

HGVS Amino-acid Change
NM_006772.3:c.3788_3794del (SYNGAP1) MANE Select NP_006763.2:p.Ile1263SerfsTer2
ENST00000646630.1:c.3788_3794del (SYNGAP1) MANE Select ENSP00000496007.1:p.Ile1263SerfsTer2
NM_001130066.1:c.3740_3746del (SYNGAP1) NP_001123538.1:p.Ile1247SerfsTer2
NM_001130066.2:c.3740_3746del (SYNGAP1) NP_001123538.1:p.Ile1247SerfsTer2
NM_006772.2:c.3788_3794del (SYNGAP1) NP_006763.2:p.Ile1263SerfsTer2
NR_174954.1:n.149_155del (SYNGAP1-AS1)
ENST00000293748.9:c.3743_3749del (SYNGAP1) ENSP00000293748.6:p.Ile1248SerfsTer2
ENST00000418600.6:c.3788_3794del (SYNGAP1) ENSP00000403636.3:p.Ile1263ThrfsTer?
ENST00000418600.7:c.3788_3794del (SYNGAP1) ENSP00000403636.3:p.Ile1263ThrfsTer?
ENST00000428982.4:c.3611_3617del (SYNGAP1) ENSP00000412475.2:p.Ile1204SerfsTer2
ENST00000449372.6:c.3740_3746del (SYNGAP1) ENSP00000416519.3:p.Ile1247SerfsTer2
ENST00000449372.7:c.3740_3746del (SYNGAP1) ENSP00000416519.4:p.Ile1247SerfsTer2
ENST00000470232.1:n.70_76del (SYNGAP1)
ENST00000628646.2:c.3788_3794del (SYNGAP1) ENSP00000486431.1:p.Ile1263SerfsTer2
ENST00000629380.2:c.3788_3794del (SYNGAP1) ENSP00000486463.1:p.Ile1263SerfsTer2
ENST00000629380.3:c.3788_3794del (SYNGAP1) ENSP00000486463.1:p.Ile1263SerfsTer2
ENST00000636436.1:n.70_76del (SYNGAP1)
ENST00000644458.1:c.3788_3794del (SYNGAP1) ENSP00000495541.1:p.Ile1263SerfsTer2
ENST00000645250.1:c.3611_3617del (SYNGAP1) ENSP00000494861.1:p.Ile1204SerfsTer2
ENST00000682587.1:c.3530_3536del (SYNGAP1) ENSP00000507403.1:p.Ile1177SerfsTer2
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