Canonical Allele Identifier: CA2411008455

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721788C= , CM000684.2:g.50721788C=	GRCh38
NC_000022.10:g.51160216C= , CM000684.1:g.51160216C=	GRCh37
NC_000022.9:g.49507082C=	NCBI36
NG_008607.2:g.52434C=
NG_070230.1:g.57572C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3556C=	ENSP00000489147.2:p.Leu1186=
ENST00000414786.7:n.4140C=
ENST00000445220.7:c.2608C=	ENSP00000489407.2:p.Leu870=
ENST00000664402.2:c.2098C=	ENSP00000499475.1:p.Leu700=
ENST00000673971.2:c.*2554C=	ENSP00000501192.1:n.*2554C=
ENST00000445220.6:c.2608C=	ENSP00000489407.2:p.Leu870=
ENST00000262795.6:c.3556C=	ENSP00000489147.2:p.Leu1186=
ENST00000664402.1:c.2098C=	ENSP00000499475.1:p.Leu700=
ENST00000673971.1:c.*2554C=	ENSP00000501192.1:n.*2554C=
ENST00000262795.5:c.3952C=	ENSP00000489147.1:p.Leu1318=
ENST00000414786.6:n.4140C=
ENST00000445220.5:c.3934C=	ENSP00000489407.1:p.Leu1312=