Canonical Allele Identifier: CA2657598565

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697576-T-TGCGCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697579_50697587dup , CM000684.2:g.50697579_50697587dup	GRCh38
NC_000022.10:g.51136007_51136015dup , CM000684.1:g.51136007_51136015dup	GRCh37
NC_000022.9:g.49482873_49482881dup	NCBI36
NG_008607.2:g.28225_28233dup
NG_070230.1:g.33444_33452dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.963_971dup	ENSP00000489147.2:p.Ala324_Pro325insProProAla
ENST00000414786.7:n.1547_1555dup
ENST00000445220.7:c.15_23dup	ENSP00000489407.2:p.Ala8_Pro9insProProAla
ENST00000673971.2:c.1320_1328dup	ENSP00000501192.1:p.Ala443_Pro444insProProAla
ENST00000445220.6:c.15_23dup	ENSP00000489407.2:p.Ala8_Pro9insProProAla
ENST00000262795.6:c.963_971dup	ENSP00000489147.2:p.Ala324_Pro325insProProAla
ENST00000673971.1:c.1320_1328dup	ENSP00000501192.1:p.Ala443_Pro444insProProAla
ENST00000673995.1:c.16_24dup
ENST00000262795.5:c.1359_1367dup	ENSP00000489147.1:p.Ala456_Pro457insProProAla
ENST00000414786.6:n.1547_1555dup
ENST00000445220.5:c.1341_1349dup	ENSP00000489407.1:p.Ala450_Pro451insProProAla