Canonical Allele Identifier: CA2411008649

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722158T= , CM000684.2:g.50722158T=	GRCh38
NC_000022.10:g.51160586T= , CM000684.1:g.51160586T=	GRCh37
NC_000022.9:g.49507452T=	NCBI36
NG_008607.2:g.52804T=
NG_070230.1:g.57942T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3926T=	ENSP00000489147.2:p.Leu1309=
ENST00000414786.7:n.4510T=
ENST00000445220.7:c.2978T=	ENSP00000489407.2:p.Leu993=
ENST00000664402.2:c.2468T=	ENSP00000499475.1:p.Leu823=
ENST00000673971.2:c.*2924T=	ENSP00000501192.1:n.*2924T=
ENST00000445220.6:c.2978T=	ENSP00000489407.2:p.Leu993=
ENST00000262795.6:c.3926T=	ENSP00000489147.2:p.Leu1309=
ENST00000664402.1:c.2468T=	ENSP00000499475.1:p.Leu823=
ENST00000673971.1:c.*2924T=	ENSP00000501192.1:n.*2924T=
ENST00000262795.5:c.4322T=	ENSP00000489147.1:p.Leu1441=
ENST00000414786.6:n.4510T=
ENST00000445220.5:c.4304T=	ENSP00000489407.1:p.Leu1435=