Canonical Allele Identifier: CA754092664

Gene: SHANK3

Linked Data

• dbSNP Id: rs1048276757
• gnomAD v4: 22-50720555-C-CCCCCGCCCGCGGCCA
• MyVariant Identifiers: chr22:g.51158983_51158984insCCCCGCCCGCGGCCA (hg19) ; chr22:g.50720555_50720556insCCCCGCCCGCGGCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720565_50720579dup , CM000684.2:g.50720565_50720579dup	GRCh38
NC_000022.10:g.51158993_51159007dup , CM000684.1:g.51158993_51159007dup	GRCh37
NC_000022.9:g.49505859_49505873dup	NCBI36
NG_008607.2:g.51211_51225dup
NG_070230.1:g.56349_56363dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2333_2347dup	ENSP00000489147.2:p.Pro782_Glu783insAlaAlaThrProPro
ENST00000414786.7:n.2917_2931dup
ENST00000445220.7:c.1385_1399dup	ENSP00000489407.2:p.Pro466_Glu467insAlaAlaThrProPro
ENST00000664402.2:c.875_889dup	ENSP00000499475.1:p.Pro296_Glu297insAlaAlaThrProPro
ENST00000673971.2:c.*1331_*1345dup	ENSP00000501192.1:n.*1331_*1345dup
ENST00000445220.6:c.1385_1399dup	ENSP00000489407.2:p.Pro466_Glu467insAlaAlaThrProPro
ENST00000262795.6:c.2333_2347dup	ENSP00000489147.2:p.Pro782_Glu783insAlaAlaThrProPro
ENST00000664402.1:c.875_889dup	ENSP00000499475.1:p.Pro296_Glu297insAlaAlaThrProPro
ENST00000673971.1:c.*1331_*1345dup	ENSP00000501192.1:n.*1331_*1345dup
ENST00000262795.5:c.2729_2743dup	ENSP00000489147.1:p.Pro914_Glu915insAlaAlaThrProPro
ENST00000414786.6:n.2917_2931dup
ENST00000445220.5:c.2711_2725dup	ENSP00000489407.1:p.Pro908_Glu909insAlaAlaThrProPro