Canonical Allele Identifier: CA2411008034

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721106C= , CM000684.2:g.50721106C=	GRCh38
NC_000022.10:g.51159534C= , CM000684.1:g.51159534C=	GRCh37
NC_000022.9:g.49506400C=	NCBI36
NG_008607.2:g.51752C=
NG_070230.1:g.56890C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2874C=	ENSP00000489147.2:p.Ser958=
ENST00000414786.7:n.3458C=
ENST00000445220.7:c.1926C=	ENSP00000489407.2:p.Ser642=
ENST00000664402.2:c.1416C=	ENSP00000499475.1:p.Ser472=
ENST00000673971.2:c.*1872C=	ENSP00000501192.1:n.*1872C=
ENST00000445220.6:c.1926C=	ENSP00000489407.2:p.Ser642=
ENST00000262795.6:c.2874C=	ENSP00000489147.2:p.Ser958=
ENST00000664402.1:c.1416C=	ENSP00000499475.1:p.Ser472=
ENST00000673971.1:c.*1872C=	ENSP00000501192.1:n.*1872C=
ENST00000262795.5:c.3270C=	ENSP00000489147.1:p.Ser1090=
ENST00000414786.6:n.3458C=
ENST00000445220.5:c.3252C=	ENSP00000489407.1:p.Ser1084=