Canonical Allele Identifier: CA2411008695

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722231C= , CM000684.2:g.50722231C=	GRCh38
NC_000022.10:g.51160659C= , CM000684.1:g.51160659C=	GRCh37
NC_000022.9:g.49507525C=	NCBI36
NG_008607.2:g.52877C=
NG_070230.1:g.58015C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3999C=	ENSP00000489147.2:p.Leu1333=
ENST00000414786.7:n.4583C=
ENST00000445220.7:c.3051C=	ENSP00000489407.2:p.Leu1017=
ENST00000664402.2:c.2541C=	ENSP00000499475.1:p.Leu847=
ENST00000673971.2:c.*2997C=	ENSP00000501192.1:n.*2997C=
ENST00000445220.6:c.3051C=	ENSP00000489407.2:p.Leu1017=
ENST00000262795.6:c.3999C=	ENSP00000489147.2:p.Leu1333=
ENST00000664402.1:c.2541C=	ENSP00000499475.1:p.Leu847=
ENST00000673971.1:c.*2997C=	ENSP00000501192.1:n.*2997C=
ENST00000262795.5:c.4395C=	ENSP00000489147.1:p.Leu1465=
ENST00000414786.6:n.4583C=
ENST00000445220.5:c.4377C=	ENSP00000489407.1:p.Leu1459=