Canonical Allele Identifier: CA2411008674

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722194T= , CM000684.2:g.50722194T=	GRCh38
NC_000022.10:g.51160622T= , CM000684.1:g.51160622T=	GRCh37
NC_000022.9:g.49507488T=	NCBI36
NG_008607.2:g.52840T=
NG_070230.1:g.57978T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3962T=	ENSP00000489147.2:p.Leu1321=
ENST00000414786.7:n.4546T=
ENST00000445220.7:c.3014T=	ENSP00000489407.2:p.Leu1005=
ENST00000664402.2:c.2504T=	ENSP00000499475.1:p.Leu835=
ENST00000673971.2:c.*2960T=	ENSP00000501192.1:n.*2960T=
ENST00000445220.6:c.3014T=	ENSP00000489407.2:p.Leu1005=
ENST00000262795.6:c.3962T=	ENSP00000489147.2:p.Leu1321=
ENST00000664402.1:c.2504T=	ENSP00000499475.1:p.Leu835=
ENST00000673971.1:c.*2960T=	ENSP00000501192.1:n.*2960T=
ENST00000262795.5:c.4358T=	ENSP00000489147.1:p.Leu1453=
ENST00000414786.6:n.4546T=
ENST00000445220.5:c.4340T=	ENSP00000489407.1:p.Leu1447=