Canonical Allele Identifier: CA2411007769

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720705C= , CM000684.2:g.50720705C=	GRCh38
NC_000022.10:g.51159133C= , CM000684.1:g.51159133C=	GRCh37
NC_000022.9:g.49505999C=	NCBI36
NG_008607.2:g.51351C=
NG_070230.1:g.56489C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2473C=	ENSP00000489147.2:p.Leu825=
ENST00000414786.7:n.3057C=
ENST00000445220.7:c.1525C=	ENSP00000489407.2:p.Leu509=
ENST00000664402.2:c.1015C=	ENSP00000499475.1:p.Leu339=
ENST00000673971.2:c.*1471C=	ENSP00000501192.1:n.*1471C=
ENST00000445220.6:c.1525C=	ENSP00000489407.2:p.Leu509=
ENST00000262795.6:c.2473C=	ENSP00000489147.2:p.Leu825=
ENST00000664402.1:c.1015C=	ENSP00000499475.1:p.Leu339=
ENST00000673971.1:c.*1471C=	ENSP00000501192.1:n.*1471C=
ENST00000262795.5:c.2869C=	ENSP00000489147.1:p.Leu957=
ENST00000414786.6:n.3057C=
ENST00000445220.5:c.2851C=	ENSP00000489407.1:p.Leu951=