Canonical Allele Identifier: CA2819325433

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697557_50697558insGGGCCGGGCGCGGCGGCCCCGGCCCCGCGCCCGGCC , CM000684.2:g.50697557_50697558insGGGCCGGGCGCGGCGGCCCCGGCCCCGCGCCCGGCC	GRCh38
NC_000022.10:g.51135985_51135986insGGGCCGGGCGCGGCGGCCCCGGCCCCGCGCCCGGCC , CM000684.1:g.51135985_51135986insGGGCCGGGCGCGGCGGCCCCGGCCCCGCGCCCGGCC	GRCh37
NC_000022.9:g.49482851_49482852insGGGCCGGGCGCGGCGGCCCCGGCCCCGCGCCCGGCC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-7_948-6insGGGCCGGGCGCGGCGGCCCCGGCCCCGCGCCCGGCC	ENSP00000489147.2:n.948-7_948-6insGGGCCGGGCGCGGCGGCCCCGGCCCCG...
ENST00000414786.7:n.1532-7_1532-6insGGGCCGGGCGCGGCGGCCCCGGCCCCGCGCCCGGCC
ENST00000673971.2:c.1305-7_1305-6insGGGCCGGGCGCGGCGGCCCCGGCCCCGCGCCCGGCC	ENSP00000501192.1:n.1305-7_1305-6insGGGCCGGGCGCGGCGGCCCCGGCCC...
ENST00000262795.6:c.948-7_948-6insGGGCCGGGCGCGGCGGCCCCGGCCCCGCGCCCGGCC	ENSP00000489147.2:n.948-7_948-6insGGGCCGGGCGCGGCGGCCCCGGCCCCG...
ENST00000673971.1:c.1305-7_1305-6insGGGCCGGGCGCGGCGGCCCCGGCCCCGCGCCCGGCC	ENSP00000501192.1:n.1305-7_1305-6insGGGCCGGGCGCGGCGGCCCCGGCCC...
ENST00000262795.5:c.1345-8_1345-7insGGGCCGGGCGCGGCGGCCCCGGCCCCGCGCCCGGCC	ENSP00000489147.1:n.1345-8_1345-7insGGGCCGGGCGCGGCGGCCCCGGCCC...
ENST00000414786.6:n.1532-7_1532-6insGGGCCGGGCGCGGCGGCCCCGGCCCCGCGCCCGGCC
ENST00000445220.5:c.1326-7_1326-6insGGGCCGGGCGCGGCGGCCCCGGCCCCGCGCCCGGCC	ENSP00000489407.1:n.1326-7_1326-6insGGGCCGGGCGCGGCGGCCCCGGCCC...