Canonical Allele Identifier: CA2411008664

Gene: SHANK3

Linked Data

• dbSNP Id: rs766541972
• gnomAD v4: 22-50722180-C-CGCCTCTGCCGGGCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722191_50722205dup , CM000684.2:g.50722191_50722205dup	GRCh38
NC_000022.10:g.51160619_51160633dup , CM000684.1:g.51160619_51160633dup	GRCh37
NC_000022.9:g.49507485_49507499dup	NCBI36
NG_008607.2:g.52837_52851dup
NG_070230.1:g.57975_57989dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3959_3973dup	ENSP00000489147.2:p.Ala1324_Ala1325insGlyLeuAlaSerAla
ENST00000414786.7:n.4543_4557dup
ENST00000445220.7:c.3011_3025dup	ENSP00000489407.2:p.Ala1008_Ala1009insGlyLeuAlaSerAla
ENST00000664402.2:c.2501_2515dup	ENSP00000499475.1:p.Ala838_Ala839insGlyLeuAlaSerAla
ENST00000673971.2:c.*2957_*2971dup	ENSP00000501192.1:n.*2957_*2971dup
ENST00000445220.6:c.3011_3025dup	ENSP00000489407.2:p.Ala1008_Ala1009insGlyLeuAlaSerAla
ENST00000262795.6:c.3959_3973dup	ENSP00000489147.2:p.Ala1324_Ala1325insGlyLeuAlaSerAla
ENST00000664402.1:c.2501_2515dup	ENSP00000499475.1:p.Ala838_Ala839insGlyLeuAlaSerAla
ENST00000673971.1:c.*2957_*2971dup	ENSP00000501192.1:n.*2957_*2971dup
ENST00000262795.5:c.4355_4369dup	ENSP00000489147.1:p.Ala1456_Ala1457insGlyLeuAlaSerAla
ENST00000414786.6:n.4543_4557dup
ENST00000445220.5:c.4337_4351dup	ENSP00000489407.1:p.Ala1450_Ala1451insGlyLeuAlaSerAla