Canonical Allele Identifier: CA2411008533

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721918C= , CM000684.2:g.50721918C=	GRCh38
NC_000022.10:g.51160346C= , CM000684.1:g.51160346C=	GRCh37
NC_000022.9:g.49507212C=	NCBI36
NG_008607.2:g.52564C=
NG_070230.1:g.57702C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3686C=	ENSP00000489147.2:p.Thr1229=
ENST00000414786.7:n.4270C=
ENST00000445220.7:c.2738C=	ENSP00000489407.2:p.Thr913=
ENST00000664402.2:c.2228C=	ENSP00000499475.1:p.Thr743=
ENST00000673971.2:c.*2684C=	ENSP00000501192.1:n.*2684C=
ENST00000445220.6:c.2738C=	ENSP00000489407.2:p.Thr913=
ENST00000262795.6:c.3686C=	ENSP00000489147.2:p.Thr1229=
ENST00000664402.1:c.2228C=	ENSP00000499475.1:p.Thr743=
ENST00000673971.1:c.*2684C=	ENSP00000501192.1:n.*2684C=
ENST00000262795.5:c.4082C=	ENSP00000489147.1:p.Thr1361=
ENST00000414786.6:n.4270C=
ENST00000445220.5:c.4064C=	ENSP00000489407.1:p.Thr1355=