Canonical Allele Identifier: CA2411008633

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722124G= , CM000684.2:g.50722124G=	GRCh38
NC_000022.10:g.51160552G= , CM000684.1:g.51160552G=	GRCh37
NC_000022.9:g.49507418G=	NCBI36
NG_008607.2:g.52770G=
NG_070230.1:g.57908G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3892G=	ENSP00000489147.2:p.Asp1298=
ENST00000414786.7:n.4476G=
ENST00000445220.7:c.2944G=	ENSP00000489407.2:p.Asp982=
ENST00000664402.2:c.2434G=	ENSP00000499475.1:p.Asp812=
ENST00000673971.2:c.*2890G=	ENSP00000501192.1:n.*2890G=
ENST00000445220.6:c.2944G=	ENSP00000489407.2:p.Asp982=
ENST00000262795.6:c.3892G=	ENSP00000489147.2:p.Asp1298=
ENST00000664402.1:c.2434G=	ENSP00000499475.1:p.Asp812=
ENST00000673971.1:c.*2890G=	ENSP00000501192.1:n.*2890G=
ENST00000262795.5:c.4288G=	ENSP00000489147.1:p.Asp1430=
ENST00000414786.6:n.4476G=
ENST00000445220.5:c.4270G=	ENSP00000489407.1:p.Asp1424=