Canonical Allele Identifier: CA2410995362

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697590C= , CM000684.2:g.50697590C=	GRCh38
NC_000022.10:g.51136018C= , CM000684.1:g.51136018C=	GRCh37
NC_000022.9:g.49482884C=	NCBI36
NG_008607.2:g.28236C=
NG_070230.1:g.33455C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.974C=	ENSP00000489147.2:p.Pro325=
ENST00000414786.7:n.1558C=
ENST00000445220.7:c.26C=	ENSP00000489407.2:p.Pro9=
ENST00000673971.2:c.1331C=	ENSP00000501192.1:p.Pro444=
ENST00000445220.6:c.26C=	ENSP00000489407.2:p.Pro9=
ENST00000262795.6:c.974C=	ENSP00000489147.2:p.Pro325=
ENST00000673971.1:c.1331C=	ENSP00000501192.1:p.Pro444=
ENST00000673995.1:c.27C=
ENST00000262795.5:c.1370C=	ENSP00000489147.1:p.Pro457=
ENST00000414786.6:n.1558C=
ENST00000445220.5:c.1352C=	ENSP00000489407.1:p.Pro451=