Canonical Allele Identifier: CA2678269906

Gene: SYNGAP1

Linked Data

• gnomAD v4: 6-33432566-GCCTCTGGAGACTTCCCTTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33432569_33432588del , CM000668.2:g.33432569_33432588del	GRCh38
NC_000006.11:g.33400346_33400365del , CM000668.1:g.33400346_33400365del	GRCh37
NC_000006.10:g.33508324_33508343del	NCBI36
NG_016137.1:g.17500_17519del
NG_016137.2:g.17500_17519del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682587.1:c.130-116_130-97del	ENSP00000507403.1:n.130-116_130-97del
ENST00000418600.7:c.388-116_388-97del	ENSP00000403636.3:n.388-116_388-97del
ENST00000449372.7:c.388-116_388-97del	ENSP00000416519.4:n.388-116_388-97del
ENST00000629380.3:c.388-116_388-97del	ENSP00000486463.1:n.388-116_388-97del
ENST00000638142.2:c.388-116_388-97del	ENSP00000490803.1:n.388-116_388-97del
ENST00000644458.1:c.388-116_388-97del	ENSP00000495541.1:n.388-116_388-97del
ENST00000645250.1:c.211-116_211-97del	ENSP00000494861.1:n.211-116_211-97del
ENST00000646630.1:c.388-116_388-97del MANE Select	ENSP00000496007.1:n.388-116_388-97del
ENST00000293748.9:c.343-116_343-97del	ENSP00000293748.6:n.343-116_343-97del
ENST00000418600.6:c.388-116_388-97del	ENSP00000403636.3:n.388-116_388-97del
ENST00000428982.4:c.211-116_211-97del	ENSP00000412475.2:n.211-116_211-97del
ENST00000449372.6:c.388-116_388-97del	ENSP00000416519.3:n.388-116_388-97del
ENST00000479510.2:n.583-116_583-97del
ENST00000628646.2:c.388-116_388-97del	ENSP00000486431.1:n.388-116_388-97del
ENST00000629380.2:c.388-116_388-97del	ENSP00000486463.1:n.388-116_388-97del
NM_006772.2:c.388-116_388-97del	NP_006763.2:n.388-116_388-97del
NM_001130066.1:c.388-116_388-97del	NP_001123538.1:n.388-116_388-97del
NM_001130066.2:c.388-116_388-97del	NP_001123538.1:n.388-116_388-97del
NM_006772.3:c.388-116_388-97del MANE Select	NP_006763.2:n.388-116_388-97del