Canonical Allele Identifier: CA2411007762

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720690C= , CM000684.2:g.50720690C=	GRCh38
NC_000022.10:g.51159118C= , CM000684.1:g.51159118C=	GRCh37
NC_000022.9:g.49505984C=	NCBI36
NG_008607.2:g.51336C=
NG_070230.1:g.56474C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2458C=	ENSP00000489147.2:p.Pro820=
ENST00000414786.7:n.3042C=
ENST00000445220.7:c.1510C=	ENSP00000489407.2:p.Pro504=
ENST00000664402.2:c.1000C=	ENSP00000499475.1:p.Pro334=
ENST00000673971.2:c.*1456C=	ENSP00000501192.1:n.*1456C=
ENST00000445220.6:c.1510C=	ENSP00000489407.2:p.Pro504=
ENST00000262795.6:c.2458C=	ENSP00000489147.2:p.Pro820=
ENST00000664402.1:c.1000C=	ENSP00000499475.1:p.Pro334=
ENST00000673971.1:c.*1456C=	ENSP00000501192.1:n.*1456C=
ENST00000262795.5:c.2854C=	ENSP00000489147.1:p.Pro952=
ENST00000414786.6:n.3042C=
ENST00000445220.5:c.2836C=	ENSP00000489407.1:p.Pro946=