Canonical Allele Identifier: CA2411008617

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722097C= , CM000684.2:g.50722097C=	GRCh38
NC_000022.10:g.51160525C= , CM000684.1:g.51160525C=	GRCh37
NC_000022.9:g.49507391C=	NCBI36
NG_008607.2:g.52743C=
NG_070230.1:g.57881C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3865C=	ENSP00000489147.2:p.Leu1289=
ENST00000414786.7:n.4449C=
ENST00000445220.7:c.2917C=	ENSP00000489407.2:p.Leu973=
ENST00000664402.2:c.2407C=	ENSP00000499475.1:p.Leu803=
ENST00000673971.2:c.*2863C=	ENSP00000501192.1:n.*2863C=
ENST00000445220.6:c.2917C=	ENSP00000489407.2:p.Leu973=
ENST00000262795.6:c.3865C=	ENSP00000489147.2:p.Leu1289=
ENST00000664402.1:c.2407C=	ENSP00000499475.1:p.Leu803=
ENST00000673971.1:c.*2863C=	ENSP00000501192.1:n.*2863C=
ENST00000262795.5:c.4261C=	ENSP00000489147.1:p.Leu1421=
ENST00000414786.6:n.4449C=
ENST00000445220.5:c.4243C=	ENSP00000489407.1:p.Leu1415=