Canonical Allele Identifier: CA2411008186

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721351C= , CM000684.2:g.50721351C=	GRCh38
NC_000022.10:g.51159779C= , CM000684.1:g.51159779C=	GRCh37
NC_000022.9:g.49506645C=	NCBI36
NG_008607.2:g.51997C=
NG_070230.1:g.57135C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3119C=	ENSP00000489147.2:p.Ala1040=
ENST00000414786.7:n.3703C=
ENST00000445220.7:c.2171C=	ENSP00000489407.2:p.Ala724=
ENST00000664402.2:c.1661C=	ENSP00000499475.1:p.Ala554=
ENST00000673971.2:c.*2117C=	ENSP00000501192.1:n.*2117C=
ENST00000445220.6:c.2171C=	ENSP00000489407.2:p.Ala724=
ENST00000262795.6:c.3119C=	ENSP00000489147.2:p.Ala1040=
ENST00000664402.1:c.1661C=	ENSP00000499475.1:p.Ala554=
ENST00000673971.1:c.*2117C=	ENSP00000501192.1:n.*2117C=
ENST00000262795.5:c.3515C=	ENSP00000489147.1:p.Ala1172=
ENST00000414786.6:n.3703C=
ENST00000445220.5:c.3497C=	ENSP00000489407.1:p.Ala1166=