Canonical Allele Identifier: CA2740130112

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721121_50721122dup , CM000684.2:g.50721121_50721122dup	GRCh38
NC_000022.10:g.51159549_51159550dup , CM000684.1:g.51159549_51159550dup	GRCh37
NC_000022.9:g.49506415_49506416dup	NCBI36
NG_008607.2:g.51767_51768dup
NG_070230.1:g.56905_56906dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2889_2890dup	ENSP00000489147.2:p.Leu964HisfsTer?
ENST00000414786.7:n.3473_3474dup
ENST00000445220.7:c.1941_1942dup	ENSP00000489407.2:p.Leu648HisfsTer?
ENST00000664402.2:c.1431_1432dup	ENSP00000499475.1:p.Leu478HisfsTer?
ENST00000673971.2:c.*1887_*1888dup	ENSP00000501192.1:n.*1887_*1888dup
ENST00000445220.6:c.1941_1942dup	ENSP00000489407.2:p.Leu648HisfsTer?
ENST00000262795.6:c.2889_2890dup	ENSP00000489147.2:p.Leu964HisfsTer?
ENST00000664402.1:c.1431_1432dup	ENSP00000499475.1:p.Leu478HisfsTer?
ENST00000673971.1:c.*1887_*1888dup	ENSP00000501192.1:n.*1887_*1888dup
ENST00000262795.5:c.3285_3286dup	ENSP00000489147.1:p.Leu1096HisfsTer?
ENST00000414786.6:n.3473_3474dup
ENST00000445220.5:c.3267_3268dup	ENSP00000489407.1:p.Leu1090HisfsTer?