Canonical Allele Identifier: CA2410995205

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083087204

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697428_50697439dup , CM000684.2:g.50697428_50697439dup	GRCh38
NC_000022.10:g.51135856_51135867dup , CM000684.1:g.51135856_51135867dup	GRCh37
NC_000022.9:g.49482722_49482733dup	NCBI36
NG_008607.2:g.27787_27798dup
NG_070230.1:g.33006_33017dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-136_948-125dup	ENSP00000489147.2:n.948-136_948-125dup
ENST00000414786.7:n.1532-136_1532-125dup
ENST00000673971.2:c.1305-136_1305-125dup	ENSP00000501192.1:n.1305-136_1305-125dup
ENST00000262795.6:c.948-136_948-125dup	ENSP00000489147.2:n.948-136_948-125dup
ENST00000673971.1:c.1305-136_1305-125dup	ENSP00000501192.1:n.1305-136_1305-125dup
ENST00000262795.5:c.1345-137_1345-126dup	ENSP00000489147.1:n.1345-137_1345-126dup
ENST00000414786.6:n.1532-136_1532-125dup
ENST00000445220.5:c.1326-136_1326-125dup	ENSP00000489407.1:n.1326-136_1326-125dup