Canonical Allele Identifier: CA2411008603

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722067G= , CM000684.2:g.50722067G=	GRCh38
NC_000022.10:g.51160495G= , CM000684.1:g.51160495G=	GRCh37
NC_000022.9:g.49507361G=	NCBI36
NG_008607.2:g.52713G=
NG_070230.1:g.57851G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3835G=	ENSP00000489147.2:p.Val1279=
ENST00000414786.7:n.4419G=
ENST00000445220.7:c.2887G=	ENSP00000489407.2:p.Val963=
ENST00000664402.2:c.2377G=	ENSP00000499475.1:p.Val793=
ENST00000673971.2:c.*2833G=	ENSP00000501192.1:n.*2833G=
ENST00000445220.6:c.2887G=	ENSP00000489407.2:p.Val963=
ENST00000262795.6:c.3835G=	ENSP00000489147.2:p.Val1279=
ENST00000664402.1:c.2377G=	ENSP00000499475.1:p.Val793=
ENST00000673971.1:c.*2833G=	ENSP00000501192.1:n.*2833G=
ENST00000262795.5:c.4231G=	ENSP00000489147.1:p.Val1411=
ENST00000414786.6:n.4419G=
ENST00000445220.5:c.4213G=	ENSP00000489407.1:p.Val1405=