Canonical Allele Identifier: CA2411013143

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50731045C= , CM000684.2:g.50731045C=	GRCh38
NC_000022.10:g.51169473C= , CM000684.1:g.51169473C=	GRCh37
NC_000022.9:g.49516339C=	NCBI36
NG_008607.2:g.61691C=
NG_070230.1:g.66829C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4557C=	ENSP00000489147.2:p.Pro1519=
ENST00000414786.7:n.5141C=
ENST00000445220.7:c.3609C=	ENSP00000489407.2:p.Pro1203=
ENST00000664402.2:c.3099C=	ENSP00000499475.1:p.Pro1033=
ENST00000673971.2:c.*3555C=	ENSP00000501192.1:n.*3555C=
ENST00000445220.6:c.3609C=	ENSP00000489407.2:p.Pro1203=
ENST00000262795.6:c.4557C=	ENSP00000489147.2:p.Pro1519=
ENST00000659388.1:c.372C=	ENSP00000499632.1:p.Pro124=
ENST00000664402.1:c.3099C=	ENSP00000499475.1:p.Pro1033=
ENST00000673971.1:c.*3555C=	ENSP00000501192.1:n.*3555C=
ENST00000262795.5:c.4926C=	ENSP00000489147.1:p.Pro1642=
ENST00000414786.6:n.5141C=
ENST00000445220.5:c.4908C=	ENSP00000489407.1:p.Pro1636=