Canonical Allele Identifier: CA2411008657

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722167A= , CM000684.2:g.50722167A=	GRCh38
NC_000022.10:g.51160595A= , CM000684.1:g.51160595A=	GRCh37
NC_000022.9:g.49507461A=	NCBI36
NG_008607.2:g.52813A=
NG_070230.1:g.57951A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3935A=	ENSP00000489147.2:p.Gln1312=
ENST00000414786.7:n.4519A=
ENST00000445220.7:c.2987A=	ENSP00000489407.2:p.Gln996=
ENST00000664402.2:c.2477A=	ENSP00000499475.1:p.Gln826=
ENST00000673971.2:c.*2933A=	ENSP00000501192.1:n.*2933A=
ENST00000445220.6:c.2987A=	ENSP00000489407.2:p.Gln996=
ENST00000262795.6:c.3935A=	ENSP00000489147.2:p.Gln1312=
ENST00000664402.1:c.2477A=	ENSP00000499475.1:p.Gln826=
ENST00000673971.1:c.*2933A=	ENSP00000501192.1:n.*2933A=
ENST00000262795.5:c.4331A=	ENSP00000489147.1:p.Gln1444=
ENST00000414786.6:n.4519A=
ENST00000445220.5:c.4313A=	ENSP00000489407.1:p.Gln1438=