Canonical Allele Identifier: CA2411008002

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721051C= , CM000684.2:g.50721051C=	GRCh38
NC_000022.10:g.51159479C= , CM000684.1:g.51159479C=	GRCh37
NC_000022.9:g.49506345C=	NCBI36
NG_008607.2:g.51697C=
NG_070230.1:g.56835C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2819C=	ENSP00000489147.2:p.Pro940=
ENST00000414786.7:n.3403C=
ENST00000445220.7:c.1871C=	ENSP00000489407.2:p.Pro624=
ENST00000664402.2:c.1361C=	ENSP00000499475.1:p.Pro454=
ENST00000673971.2:c.*1817C=	ENSP00000501192.1:n.*1817C=
ENST00000445220.6:c.1871C=	ENSP00000489407.2:p.Pro624=
ENST00000262795.6:c.2819C=	ENSP00000489147.2:p.Pro940=
ENST00000664402.1:c.1361C=	ENSP00000499475.1:p.Pro454=
ENST00000673971.1:c.*1817C=	ENSP00000501192.1:n.*1817C=
ENST00000262795.5:c.3215C=	ENSP00000489147.1:p.Pro1072=
ENST00000414786.6:n.3403C=
ENST00000445220.5:c.3197C=	ENSP00000489407.1:p.Pro1066=