Canonical Allele Identifier: CA2411008501

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721865G= , CM000684.2:g.50721865G=	GRCh38
NC_000022.10:g.51160293G= , CM000684.1:g.51160293G=	GRCh37
NC_000022.9:g.49507159G=	NCBI36
NG_008607.2:g.52511G=
NG_070230.1:g.57649G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3633G=	ENSP00000489147.2:p.Glu1211=
ENST00000414786.7:n.4217G=
ENST00000445220.7:c.2685G=	ENSP00000489407.2:p.Glu895=
ENST00000664402.2:c.2175G=	ENSP00000499475.1:p.Glu725=
ENST00000673971.2:c.*2631G=	ENSP00000501192.1:n.*2631G=
ENST00000445220.6:c.2685G=	ENSP00000489407.2:p.Glu895=
ENST00000262795.6:c.3633G=	ENSP00000489147.2:p.Glu1211=
ENST00000664402.1:c.2175G=	ENSP00000499475.1:p.Glu725=
ENST00000673971.1:c.*2631G=	ENSP00000501192.1:n.*2631G=
ENST00000262795.5:c.4029G=	ENSP00000489147.1:p.Glu1343=
ENST00000414786.6:n.4217G=
ENST00000445220.5:c.4011G=	ENSP00000489407.1:p.Glu1337=