Canonical Allele Identifier: CA2411008694

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722227A= , CM000684.2:g.50722227A=	GRCh38
NC_000022.10:g.51160655A= , CM000684.1:g.51160655A=	GRCh37
NC_000022.9:g.49507521A=	NCBI36
NG_008607.2:g.52873A=
NG_070230.1:g.58011A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3995A=	ENSP00000489147.2:p.Tyr1332=
ENST00000414786.7:n.4579A=
ENST00000445220.7:c.3047A=	ENSP00000489407.2:p.Tyr1016=
ENST00000664402.2:c.2537A=	ENSP00000499475.1:p.Tyr846=
ENST00000673971.2:c.*2993A=	ENSP00000501192.1:n.*2993A=
ENST00000445220.6:c.3047A=	ENSP00000489407.2:p.Tyr1016=
ENST00000262795.6:c.3995A=	ENSP00000489147.2:p.Tyr1332=
ENST00000664402.1:c.2537A=	ENSP00000499475.1:p.Tyr846=
ENST00000673971.1:c.*2993A=	ENSP00000501192.1:n.*2993A=
ENST00000262795.5:c.4391A=	ENSP00000489147.1:p.Tyr1464=
ENST00000414786.6:n.4579A=
ENST00000445220.5:c.4373A=	ENSP00000489407.1:p.Tyr1458=