Canonical Allele Identifier: CA2410995347

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697575C= , CM000684.2:g.50697575C=	GRCh38
NC_000022.10:g.51136003C= , CM000684.1:g.51136003C=	GRCh37
NC_000022.9:g.49482869C=	NCBI36
NG_008607.2:g.28221C=
NG_070230.1:g.33440C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.959C=	ENSP00000489147.2:p.Pro320=
ENST00000414786.7:n.1543C=
ENST00000445220.7:c.11C=	ENSP00000489407.2:p.Pro4=
ENST00000673971.2:c.1316C=	ENSP00000501192.1:p.Pro439=
ENST00000445220.6:c.11C=	ENSP00000489407.2:p.Pro4=
ENST00000262795.6:c.959C=	ENSP00000489147.2:p.Pro320=
ENST00000673971.1:c.1316C=	ENSP00000501192.1:p.Pro439=
ENST00000673995.1:c.12C=
ENST00000262795.5:c.1355C=	ENSP00000489147.1:p.Pro452=
ENST00000414786.6:n.1543C=
ENST00000445220.5:c.1337C=	ENSP00000489407.1:p.Pro446=