Canonical Allele Identifier: CA2411008583

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722020A= , CM000684.2:g.50722020A=	GRCh38
NC_000022.10:g.51160448A= , CM000684.1:g.51160448A=	GRCh37
NC_000022.9:g.49507314A=	NCBI36
NG_008607.2:g.52666A=
NG_070230.1:g.57804A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3788A=	ENSP00000489147.2:p.His1263=
ENST00000414786.7:n.4372A=
ENST00000445220.7:c.2840A=	ENSP00000489407.2:p.His947=
ENST00000664402.2:c.2330A=	ENSP00000499475.1:p.His777=
ENST00000673971.2:c.*2786A=	ENSP00000501192.1:n.*2786A=
ENST00000445220.6:c.2840A=	ENSP00000489407.2:p.His947=
ENST00000262795.6:c.3788A=	ENSP00000489147.2:p.His1263=
ENST00000664402.1:c.2330A=	ENSP00000499475.1:p.His777=
ENST00000673971.1:c.*2786A=	ENSP00000501192.1:n.*2786A=
ENST00000262795.5:c.4184A=	ENSP00000489147.1:p.His1395=
ENST00000414786.6:n.4372A=
ENST00000445220.5:c.4166A=	ENSP00000489407.1:p.His1389=