Canonical Allele Identifier: CA2411007718

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720612C= , CM000684.2:g.50720612C=	GRCh38
NC_000022.10:g.51159040C= , CM000684.1:g.51159040C=	GRCh37
NC_000022.9:g.49505906C=	NCBI36
NG_008607.2:g.51258C=
NG_070230.1:g.56396C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2380C=	ENSP00000489147.2:p.Pro794=
ENST00000414786.7:n.2964C=
ENST00000445220.7:c.1432C=	ENSP00000489407.2:p.Pro478=
ENST00000664402.2:c.922C=	ENSP00000499475.1:p.Pro308=
ENST00000673971.2:c.*1378C=	ENSP00000501192.1:n.*1378C=
ENST00000445220.6:c.1432C=	ENSP00000489407.2:p.Pro478=
ENST00000262795.6:c.2380C=	ENSP00000489147.2:p.Pro794=
ENST00000664402.1:c.922C=	ENSP00000499475.1:p.Pro308=
ENST00000673971.1:c.*1378C=	ENSP00000501192.1:n.*1378C=
ENST00000262795.5:c.2776C=	ENSP00000489147.1:p.Pro926=
ENST00000414786.6:n.2964C=
ENST00000445220.5:c.2758C=	ENSP00000489407.1:p.Pro920=