Canonical Allele Identifier: CA2410995326

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697550_50697552delinsATT , CM000684.2:g.50697550_50697552delinsATT	GRCh38
NC_000022.10:g.51135978_51135980delinsATT , CM000684.1:g.51135978_51135980delinsATT	GRCh37
NC_000022.9:g.49482844_49482846delinsATT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-14_948-12delinsATT	ENSP00000489147.2:n.948-14_948-12delinsATT
ENST00000414786.7:n.1532-14_1532-12delinsATT
ENST00000673971.2:c.1305-14_1305-12delinsATT	ENSP00000501192.1:n.1305-14_1305-12delinsATT
ENST00000262795.6:c.948-14_948-12delinsATT	ENSP00000489147.2:n.948-14_948-12delinsATT
ENST00000673971.1:c.1305-14_1305-12delinsATT	ENSP00000501192.1:n.1305-14_1305-12delinsATT
ENST00000262795.5:c.1345-15_1345-13delinsATT	ENSP00000489147.1:n.1345-15_1345-13delinsATT
ENST00000414786.6:n.1532-14_1532-12delinsATT
ENST00000445220.5:c.1326-14_1326-12delinsATT	ENSP00000489407.1:n.1326-14_1326-12delinsATT