Canonical Allele Identifier: CA2657598339

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697558-T-TGCCCCGCGCCCGGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697558_50697559insGCCCCGCGCCCGGCCC , CM000684.2:g.50697558_50697559insGCCCCGCGCCCGGCCC	GRCh38
NC_000022.10:g.51135986_51135987insGCCCCGCGCCCGGCCC , CM000684.1:g.51135986_51135987insGCCCCGCGCCCGGCCC	GRCh37
NC_000022.9:g.49482852_49482853insGCCCCGCGCCCGGCCC	NCBI36

Transcript Alleles

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