Canonical Allele Identifier: CA2410995351

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697579G= , CM000684.2:g.50697579G=	GRCh38
NC_000022.10:g.51136007G= , CM000684.1:g.51136007G=	GRCh37
NC_000022.9:g.49482873G=	NCBI36
NG_008607.2:g.28225G=
NG_070230.1:g.33444G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.963G=	ENSP00000489147.2:p.Ala321=
ENST00000414786.7:n.1547G=
ENST00000445220.7:c.15G=	ENSP00000489407.2:p.Ala5=
ENST00000673971.2:c.1320G=	ENSP00000501192.1:p.Ala440=
ENST00000445220.6:c.15G=	ENSP00000489407.2:p.Ala5=
ENST00000262795.6:c.963G=	ENSP00000489147.2:p.Ala321=
ENST00000673971.1:c.1320G=	ENSP00000501192.1:p.Ala440=
ENST00000673995.1:c.16G=
ENST00000262795.5:c.1359G=	ENSP00000489147.1:p.Ala453=
ENST00000414786.6:n.1547G=
ENST00000445220.5:c.1341G=	ENSP00000489407.1:p.Ala447=