Canonical Allele Identifier: CA2411007797

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720752C= , CM000684.2:g.50720752C=	GRCh38
NC_000022.10:g.51159180C= , CM000684.1:g.51159180C=	GRCh37
NC_000022.9:g.49506046C=	NCBI36
NG_008607.2:g.51398C=
NG_070230.1:g.56536C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2520C=	ENSP00000489147.2:p.Ser840=
ENST00000414786.7:n.3104C=
ENST00000445220.7:c.1572C=	ENSP00000489407.2:p.Ser524=
ENST00000664402.2:c.1062C=	ENSP00000499475.1:p.Ser354=
ENST00000673971.2:c.*1518C=	ENSP00000501192.1:n.*1518C=
ENST00000445220.6:c.1572C=	ENSP00000489407.2:p.Ser524=
ENST00000262795.6:c.2520C=	ENSP00000489147.2:p.Ser840=
ENST00000664402.1:c.1062C=	ENSP00000499475.1:p.Ser354=
ENST00000673971.1:c.*1518C=	ENSP00000501192.1:n.*1518C=
ENST00000262795.5:c.2916C=	ENSP00000489147.1:p.Ser972=
ENST00000414786.6:n.3104C=
ENST00000445220.5:c.2898C=	ENSP00000489407.1:p.Ser966=