Canonical Allele Identifier: CA2411013124

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50730977A= , CM000684.2:g.50730977A=	GRCh38
NC_000022.10:g.51169405A= , CM000684.1:g.51169405A=	GRCh37
NC_000022.9:g.49516271A=	NCBI36
NG_008607.2:g.61623A=
NG_070230.1:g.66761A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.5:c.4858A=	ENSP00000489147.1:p.Lys1620=
ENST00000262795.6:c.4489A=	ENSP00000489147.2:p.Lys1497=
ENST00000262795.7:c.4489A=	ENSP00000489147.2:p.Lys1497=
ENST00000414786.6:n.5073A=
ENST00000414786.7:n.5073A=
ENST00000445220.5:c.4840A=	ENSP00000489407.1:p.Lys1614=
ENST00000445220.6:c.3541A=	ENSP00000489407.2:p.Lys1181=
ENST00000445220.7:c.3541A=	ENSP00000489407.2:p.Lys1181=
ENST00000659388.1:c.304A=	ENSP00000499632.1:p.Lys102=
ENST00000664402.1:c.3031A=	ENSP00000499475.1:p.Lys1011=
ENST00000664402.2:c.3031A=	ENSP00000499475.1:p.Lys1011=
ENST00000673971.1:c.*3487A=	ENSP00000501192.1:n.*3487A=
ENST00000673971.2:c.*3487A=	ENSP00000501192.1:n.*3487A=