Canonical Allele Identifier: CA2411008425

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721736G= , CM000684.2:g.50721736G=	GRCh38
NC_000022.10:g.51160164G= , CM000684.1:g.51160164G=	GRCh37
NC_000022.9:g.49507030G=	NCBI36
NG_008607.2:g.52382G=
NG_070230.1:g.57520G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3504G=	ENSP00000489147.2:p.Leu1168=
ENST00000414786.7:n.4088G=
ENST00000445220.7:c.2556G=	ENSP00000489407.2:p.Leu852=
ENST00000664402.2:c.2046G=	ENSP00000499475.1:p.Leu682=
ENST00000673971.2:c.*2502G=	ENSP00000501192.1:n.*2502G=
ENST00000445220.6:c.2556G=	ENSP00000489407.2:p.Leu852=
ENST00000262795.6:c.3504G=	ENSP00000489147.2:p.Leu1168=
ENST00000664402.1:c.2046G=	ENSP00000499475.1:p.Leu682=
ENST00000673971.1:c.*2502G=	ENSP00000501192.1:n.*2502G=
ENST00000262795.5:c.3900G=	ENSP00000489147.1:p.Leu1300=
ENST00000414786.6:n.4088G=
ENST00000445220.5:c.3882G=	ENSP00000489407.1:p.Leu1294=