Canonical Allele Identifier: CA2657598389

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697561-G-GCCCCGGCCCCGCGCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697561_50697562insCCCCGGCCCCGCGCCCCC , CM000684.2:g.50697561_50697562insCCCCGGCCCCGCGCCCCC	GRCh38
NC_000022.10:g.51135989_51135990insCCCCGGCCCCGCGCCCCC , CM000684.1:g.51135989_51135990insCCCCGGCCCCGCGCCCCC	GRCh37
NC_000022.9:g.49482855_49482856insCCCCGGCCCCGCGCCCCC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-3_948-2insCCCCGGCCCCGCGCCCCC	ENSP00000489147.2:n.948-3_948-2insCCCCGGCCCCGCGCCCCC
ENST00000414786.7:n.1532-3_1532-2insCCCCGGCCCCGCGCCCCC
ENST00000673971.2:c.1305-3_1305-2insCCCCGGCCCCGCGCCCCC	ENSP00000501192.1:n.1305-3_1305-2insCCCCGGCCCCGCGCCCCC
ENST00000262795.6:c.948-3_948-2insCCCCGGCCCCGCGCCCCC	ENSP00000489147.2:n.948-3_948-2insCCCCGGCCCCGCGCCCCC
ENST00000673971.1:c.1305-3_1305-2insCCCCGGCCCCGCGCCCCC	ENSP00000501192.1:n.1305-3_1305-2insCCCCGGCCCCGCGCCCCC
ENST00000262795.5:c.1345-4_1345-3insCCCCGGCCCCGCGCCCCC	ENSP00000489147.1:n.1345-4_1345-3insCCCCGGCCCCGCGCCCCC
ENST00000414786.6:n.1532-3_1532-2insCCCCGGCCCCGCGCCCCC
ENST00000445220.5:c.1326-3_1326-2insCCCCGGCCCCGCGCCCCC	ENSP00000489407.1:n.1326-3_1326-2insCCCCGGCCCCGCGCCCCC