Canonical Allele Identifier: CA2411007757

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720684A= , CM000684.2:g.50720684A=	GRCh38
NC_000022.10:g.51159112A= , CM000684.1:g.51159112A=	GRCh37
NC_000022.9:g.49505978A=	NCBI36
NG_008607.2:g.51330A=
NG_070230.1:g.56468A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2452A=	ENSP00000489147.2:p.Lys818=
ENST00000414786.7:n.3036A=
ENST00000445220.7:c.1504A=	ENSP00000489407.2:p.Lys502=
ENST00000664402.2:c.994A=	ENSP00000499475.1:p.Lys332=
ENST00000673971.2:c.*1450A=	ENSP00000501192.1:n.*1450A=
ENST00000445220.6:c.1504A=	ENSP00000489407.2:p.Lys502=
ENST00000262795.6:c.2452A=	ENSP00000489147.2:p.Lys818=
ENST00000664402.1:c.994A=	ENSP00000499475.1:p.Lys332=
ENST00000673971.1:c.*1450A=	ENSP00000501192.1:n.*1450A=
ENST00000262795.5:c.2848A=	ENSP00000489147.1:p.Lys950=
ENST00000414786.6:n.3036A=
ENST00000445220.5:c.2830A=	ENSP00000489407.1:p.Lys944=