Canonical Allele Identifier: CA2657583405

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720778-C-CCCGCGAGCCCTCCCCGACCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720784_50720804dup , CM000684.2:g.50720784_50720804dup	GRCh38
NC_000022.10:g.51159212_51159232dup , CM000684.1:g.51159212_51159232dup	GRCh37
NC_000022.9:g.49506078_49506098dup	NCBI36
NG_008607.2:g.51430_51450dup
NG_070230.1:g.56568_56588dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2552_2572dup	ENSP00000489147.2:p.Arg857_Gly858insGluProSerProThrHisArg
ENST00000414786.7:n.3136_3156dup
ENST00000445220.7:c.1604_1624dup	ENSP00000489407.2:p.Arg541_Gly542insGluProSerProThrHisArg
ENST00000664402.2:c.1094_1114dup	ENSP00000499475.1:p.Arg371_Gly372insGluProSerProThrHisArg
ENST00000673971.2:c.*1550_*1570dup	ENSP00000501192.1:n.*1550_*1570dup
ENST00000445220.6:c.1604_1624dup	ENSP00000489407.2:p.Arg541_Gly542insGluProSerProThrHisArg
ENST00000262795.6:c.2552_2572dup	ENSP00000489147.2:p.Arg857_Gly858insGluProSerProThrHisArg
ENST00000664402.1:c.1094_1114dup	ENSP00000499475.1:p.Arg371_Gly372insGluProSerProThrHisArg
ENST00000673971.1:c.*1550_*1570dup	ENSP00000501192.1:n.*1550_*1570dup
ENST00000262795.5:c.2948_2968dup	ENSP00000489147.1:p.Arg989_Gly990insGluProSerProThrHisArg
ENST00000414786.6:n.3136_3156dup
ENST00000445220.5:c.2930_2950dup	ENSP00000489407.1:p.Arg983_Gly984insGluProSerProThrHisArg