Canonical Allele Identifier: CA2410995411

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697693G= , CM000684.2:g.50697693G=	GRCh38
NC_000022.10:g.51136121G= , CM000684.1:g.51136121G=	GRCh37
NC_000022.9:g.49482987G=	NCBI36
NG_008607.2:g.28339G=
NG_070230.1:g.33558G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1077G=	ENSP00000489147.2:p.Leu359=
ENST00000414786.7:n.1661G=
ENST00000445220.7:c.129G=	ENSP00000489407.2:p.Leu43=
ENST00000673971.2:c.1434G=	ENSP00000501192.1:p.Leu478=
ENST00000445220.6:c.129G=	ENSP00000489407.2:p.Leu43=
ENST00000262795.6:c.1077G=	ENSP00000489147.2:p.Leu359=
ENST00000673971.1:c.1434G=	ENSP00000501192.1:p.Leu478=
ENST00000673995.1:c.130G=
ENST00000262795.5:c.1473G=	ENSP00000489147.1:p.Leu491=
ENST00000414786.6:n.1661G=
ENST00000445220.5:c.1455G=	ENSP00000489407.1:p.Leu485=