Canonical Allele Identifier: CA2410995378

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697612G= , CM000684.2:g.50697612G=	GRCh38
NC_000022.10:g.51136040G= , CM000684.1:g.51136040G=	GRCh37
NC_000022.9:g.49482906G=	NCBI36
NG_008607.2:g.28258G=
NG_070230.1:g.33477G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.996G=	ENSP00000489147.2:p.Arg332=
ENST00000414786.7:n.1580G=
ENST00000445220.7:c.48G=	ENSP00000489407.2:p.Arg16=
ENST00000673971.2:c.1353G=	ENSP00000501192.1:p.Arg451=
ENST00000445220.6:c.48G=	ENSP00000489407.2:p.Arg16=
ENST00000262795.6:c.996G=	ENSP00000489147.2:p.Arg332=
ENST00000673971.1:c.1353G=	ENSP00000501192.1:p.Arg451=
ENST00000673995.1:c.49G=
ENST00000262795.5:c.1392G=	ENSP00000489147.1:p.Arg464=
ENST00000414786.6:n.1580G=
ENST00000445220.5:c.1374G=	ENSP00000489407.1:p.Arg458=