Canonical Allele Identifier: CA2411007928

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720945A= , CM000684.2:g.50720945A=	GRCh38
NC_000022.10:g.51159373A= , CM000684.1:g.51159373A=	GRCh37
NC_000022.9:g.49506239A=	NCBI36
NG_008607.2:g.51591A=
NG_070230.1:g.56729A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2713A=	ENSP00000489147.2:p.Ser905=
ENST00000414786.7:n.3297A=
ENST00000445220.7:c.1765A=	ENSP00000489407.2:p.Ser589=
ENST00000664402.2:c.1255A=	ENSP00000499475.1:p.Ser419=
ENST00000673971.2:c.*1711A=	ENSP00000501192.1:n.*1711A=
ENST00000445220.6:c.1765A=	ENSP00000489407.2:p.Ser589=
ENST00000262795.6:c.2713A=	ENSP00000489147.2:p.Ser905=
ENST00000664402.1:c.1255A=	ENSP00000499475.1:p.Ser419=
ENST00000673971.1:c.*1711A=	ENSP00000501192.1:n.*1711A=
ENST00000262795.5:c.3109A=	ENSP00000489147.1:p.Ser1037=
ENST00000414786.6:n.3297A=
ENST00000445220.5:c.3091A=	ENSP00000489407.1:p.Ser1031=