Canonical Allele Identifier: CA2410995349

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697577G= , CM000684.2:g.50697577G=	GRCh38
NC_000022.10:g.51136005G= , CM000684.1:g.51136005G=	GRCh37
NC_000022.9:g.49482871G=	NCBI36
NG_008607.2:g.28223G=
NG_070230.1:g.33442G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.961G=	ENSP00000489147.2:p.Ala321=
ENST00000414786.7:n.1545G=
ENST00000445220.7:c.13G=	ENSP00000489407.2:p.Ala5=
ENST00000673971.2:c.1318G=	ENSP00000501192.1:p.Ala440=
ENST00000445220.6:c.13G=	ENSP00000489407.2:p.Ala5=
ENST00000262795.6:c.961G=	ENSP00000489147.2:p.Ala321=
ENST00000673971.1:c.1318G=	ENSP00000501192.1:p.Ala440=
ENST00000673995.1:c.14G=
ENST00000262795.5:c.1357G=	ENSP00000489147.1:p.Ala453=
ENST00000414786.6:n.1545G=
ENST00000445220.5:c.1339G=	ENSP00000489407.1:p.Ala447=