Canonical Allele Identifier: CA1026687294

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697546-T-TGCCCCGCGGCCC
• gnomAD v4: 22-50697546-T-TGCCCCGCGGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697546_50697547insGCCCCGCGGCCC , CM000684.2:g.50697546_50697547insGCCCCGCGGCCC	GRCh38
NC_000022.10:g.51135974_51135975insGCCCCGCGGCCC , CM000684.1:g.51135974_51135975insGCCCCGCGGCCC	GRCh37
NC_000022.9:g.49482840_49482841insGCCCCGCGGCCC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-18_948-17insGCCCCGCGGCCC	ENSP00000489147.2:n.948-18_948-17insGCCCCGCGGCCC
ENST00000414786.7:n.1532-18_1532-17insGCCCCGCGGCCC
ENST00000673971.2:c.1305-18_1305-17insGCCCCGCGGCCC	ENSP00000501192.1:n.1305-18_1305-17insGCCCCGCGGCCC
ENST00000262795.6:c.948-18_948-17insGCCCCGCGGCCC	ENSP00000489147.2:n.948-18_948-17insGCCCCGCGGCCC
ENST00000673971.1:c.1305-18_1305-17insGCCCCGCGGCCC	ENSP00000501192.1:n.1305-18_1305-17insGCCCCGCGGCCC
ENST00000262795.5:c.1345-19_1345-18insGCCCCGCGGCCC	ENSP00000489147.1:n.1345-19_1345-18insGCCCCGCGGCCC
ENST00000414786.6:n.1532-18_1532-17insGCCCCGCGGCCC
ENST00000445220.5:c.1326-18_1326-17insGCCCCGCGGCCC	ENSP00000489407.1:n.1326-18_1326-17insGCCCCGCGGCCC