Canonical Allele Identifier: CA2410995374

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697605C= , CM000684.2:g.50697605C=	GRCh38
NC_000022.10:g.51136033C= , CM000684.1:g.51136033C=	GRCh37
NC_000022.9:g.49482899C=	NCBI36
NG_008607.2:g.28251C=
NG_070230.1:g.33470C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.989C=	ENSP00000489147.2:p.Pro330=
ENST00000414786.7:n.1573C=
ENST00000445220.7:c.41C=	ENSP00000489407.2:p.Pro14=
ENST00000673971.2:c.1346C=	ENSP00000501192.1:p.Pro449=
ENST00000445220.6:c.41C=	ENSP00000489407.2:p.Pro14=
ENST00000262795.6:c.989C=	ENSP00000489147.2:p.Pro330=
ENST00000673971.1:c.1346C=	ENSP00000501192.1:p.Pro449=
ENST00000673995.1:c.42C=
ENST00000262795.5:c.1385C=	ENSP00000489147.1:p.Pro462=
ENST00000414786.6:n.1573C=
ENST00000445220.5:c.1367C=	ENSP00000489407.1:p.Pro456=