Canonical Allele Identifier: CA2411007731

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720632C= , CM000684.2:g.50720632C=	GRCh38
NC_000022.10:g.51159060C= , CM000684.1:g.51159060C=	GRCh37
NC_000022.9:g.49505926C=	NCBI36
NG_008607.2:g.51278C=
NG_070230.1:g.56416C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2400C=	ENSP00000489147.2:p.Asn800=
ENST00000414786.7:n.2984C=
ENST00000445220.7:c.1452C=	ENSP00000489407.2:p.Asn484=
ENST00000664402.2:c.942C=	ENSP00000499475.1:p.Asn314=
ENST00000673971.2:c.*1398C=	ENSP00000501192.1:n.*1398C=
ENST00000445220.6:c.1452C=	ENSP00000489407.2:p.Asn484=
ENST00000262795.6:c.2400C=	ENSP00000489147.2:p.Asn800=
ENST00000664402.1:c.942C=	ENSP00000499475.1:p.Asn314=
ENST00000673971.1:c.*1398C=	ENSP00000501192.1:n.*1398C=
ENST00000262795.5:c.2796C=	ENSP00000489147.1:p.Asn932=
ENST00000414786.6:n.2984C=
ENST00000445220.5:c.2778C=	ENSP00000489407.1:p.Asn926=