Canonical Allele Identifier: CA1026686779

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697506-C-CGGG
• gnomAD v4: 22-50697506-C-CGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697506_50697507insGGG , CM000684.2:g.50697506_50697507insGGG	GRCh38
NC_000022.10:g.51135934_51135935insGGG , CM000684.1:g.51135934_51135935insGGG	GRCh37
NC_000022.9:g.49482800_49482801insGGG	NCBI36
NG_008607.2:g.27865_27866insGGG
NG_070230.1:g.33084_33085insGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-58_948-57insGGG	ENSP00000489147.2:n.948-58_948-57insGGG
ENST00000414786.7:n.1532-58_1532-57insGGG
ENST00000673971.2:c.1305-58_1305-57insGGG	ENSP00000501192.1:n.1305-58_1305-57insGGG
ENST00000262795.6:c.948-58_948-57insGGG	ENSP00000489147.2:n.948-58_948-57insGGG
ENST00000673971.1:c.1305-58_1305-57insGGG	ENSP00000501192.1:n.1305-58_1305-57insGGG
ENST00000262795.5:c.1345-59_1345-58insGGG	ENSP00000489147.1:n.1345-59_1345-58insGGG
ENST00000414786.6:n.1532-58_1532-57insGGG
ENST00000445220.5:c.1326-58_1326-57insGGG	ENSP00000489407.1:n.1326-58_1326-57insGGG