Canonical Allele Identifier: CA2411008713

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722272G= , CM000684.2:g.50722272G=	GRCh38
NC_000022.10:g.51160700G= , CM000684.1:g.51160700G=	GRCh37
NC_000022.9:g.49507566G=	NCBI36
NG_008607.2:g.52918G=
NG_070230.1:g.58056G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4040G=	ENSP00000489147.2:p.Ser1347=
ENST00000414786.7:n.4624G=
ENST00000445220.7:c.3092G=	ENSP00000489407.2:p.Ser1031=
ENST00000664402.2:c.2582G=	ENSP00000499475.1:p.Ser861=
ENST00000673971.2:c.*3038G=	ENSP00000501192.1:n.*3038G=
ENST00000445220.6:c.3092G=	ENSP00000489407.2:p.Ser1031=
ENST00000262795.6:c.4040G=	ENSP00000489147.2:p.Ser1347=
ENST00000664402.1:c.2582G=	ENSP00000499475.1:p.Ser861=
ENST00000673971.1:c.*3038G=	ENSP00000501192.1:n.*3038G=
ENST00000262795.5:c.4436G=	ENSP00000489147.1:p.Ser1479=
ENST00000414786.6:n.4624G=
ENST00000445220.5:c.4418G=	ENSP00000489407.1:p.Ser1473=