Canonical Allele Identifier: CA754092511

Gene: SHANK3

Linked Data

• dbSNP Id: rs1165125792
• gnomAD v3: 22-50720421-T-TGGGCGC
• gnomAD v4: 22-50720421-T-TGGGCGC
• MyVariant Identifiers: chr22:g.51158849_51158850insGGGCGC (hg19) ; chr22:g.50720421_50720422insGGGCGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720428_50720433dup , CM000684.2:g.50720428_50720433dup	GRCh38
NC_000022.10:g.51158856_51158861dup , CM000684.1:g.51158856_51158861dup	GRCh37
NC_000022.9:g.49505722_49505727dup	NCBI36
NG_008607.2:g.51074_51079dup
NG_070230.1:g.56212_56217dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2196_2201dup	ENSP00000489147.2:p.Ala734_Ala735insGlyAla
ENST00000414786.7:n.2780_2785dup
ENST00000445220.7:c.1248_1253dup	ENSP00000489407.2:p.Ala418_Ala419insGlyAla
ENST00000664402.2:c.738_743dup	ENSP00000499475.1:p.Ala248_Ala249insGlyAla
ENST00000673971.2:c.*1194_*1199dup	ENSP00000501192.1:n.*1194_*1199dup
ENST00000445220.6:c.1248_1253dup	ENSP00000489407.2:p.Ala418_Ala419insGlyAla
ENST00000262795.6:c.2196_2201dup	ENSP00000489147.2:p.Ala734_Ala735insGlyAla
ENST00000664402.1:c.738_743dup	ENSP00000499475.1:p.Ala248_Ala249insGlyAla
ENST00000673971.1:c.*1194_*1199dup	ENSP00000501192.1:n.*1194_*1199dup
ENST00000262795.5:c.2592_2597dup	ENSP00000489147.1:p.Ala866_Ala867insGlyAla
ENST00000414786.6:n.2780_2785dup
ENST00000445220.5:c.2574_2579dup	ENSP00000489407.1:p.Ala860_Ala861insGlyAla