Canonical Allele Identifier: CA2411008307

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721532C= , CM000684.2:g.50721532C=	GRCh38
NC_000022.10:g.51159960C= , CM000684.1:g.51159960C=	GRCh37
NC_000022.9:g.49506826C=	NCBI36
NG_008607.2:g.52178C=
NG_070230.1:g.57316C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3300C=	ENSP00000489147.2:p.Gly1100=
ENST00000414786.7:n.3884C=
ENST00000445220.7:c.2352C=	ENSP00000489407.2:p.Gly784=
ENST00000664402.2:c.1842C=	ENSP00000499475.1:p.Gly614=
ENST00000673971.2:c.*2298C=	ENSP00000501192.1:n.*2298C=
ENST00000445220.6:c.2352C=	ENSP00000489407.2:p.Gly784=
ENST00000262795.6:c.3300C=	ENSP00000489147.2:p.Gly1100=
ENST00000664402.1:c.1842C=	ENSP00000499475.1:p.Gly614=
ENST00000673971.1:c.*2298C=	ENSP00000501192.1:n.*2298C=
ENST00000262795.5:c.3696C=	ENSP00000489147.1:p.Gly1232=
ENST00000414786.6:n.3884C=
ENST00000445220.5:c.3678C=	ENSP00000489407.1:p.Gly1226=