Canonical Allele Identifier: CA2411007977

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721016C= , CM000684.2:g.50721016C=	GRCh38
NC_000022.10:g.51159444C= , CM000684.1:g.51159444C=	GRCh37
NC_000022.9:g.49506310C=	NCBI36
NG_008607.2:g.51662C=
NG_070230.1:g.56800C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2784C=	ENSP00000489147.2:p.Gly928=
ENST00000414786.7:n.3368C=
ENST00000445220.7:c.1836C=	ENSP00000489407.2:p.Gly612=
ENST00000664402.2:c.1326C=	ENSP00000499475.1:p.Gly442=
ENST00000673971.2:c.*1782C=	ENSP00000501192.1:n.*1782C=
ENST00000445220.6:c.1836C=	ENSP00000489407.2:p.Gly612=
ENST00000262795.6:c.2784C=	ENSP00000489147.2:p.Gly928=
ENST00000664402.1:c.1326C=	ENSP00000499475.1:p.Gly442=
ENST00000673971.1:c.*1782C=	ENSP00000501192.1:n.*1782C=
ENST00000262795.5:c.3180C=	ENSP00000489147.1:p.Gly1060=
ENST00000414786.6:n.3368C=
ENST00000445220.5:c.3162C=	ENSP00000489407.1:p.Gly1054=