Canonical Allele Identifier: CA2411008640

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722144C= , CM000684.2:g.50722144C=	GRCh38
NC_000022.10:g.51160572C= , CM000684.1:g.51160572C=	GRCh37
NC_000022.9:g.49507438C=	NCBI36
NG_008607.2:g.52790C=
NG_070230.1:g.57928C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3912C=	ENSP00000489147.2:p.Ser1304=
ENST00000414786.7:n.4496C=
ENST00000445220.7:c.2964C=	ENSP00000489407.2:p.Ser988=
ENST00000664402.2:c.2454C=	ENSP00000499475.1:p.Ser818=
ENST00000673971.2:c.*2910C=	ENSP00000501192.1:n.*2910C=
ENST00000445220.6:c.2964C=	ENSP00000489407.2:p.Ser988=
ENST00000262795.6:c.3912C=	ENSP00000489147.2:p.Ser1304=
ENST00000664402.1:c.2454C=	ENSP00000499475.1:p.Ser818=
ENST00000673971.1:c.*2910C=	ENSP00000501192.1:n.*2910C=
ENST00000262795.5:c.4308C=	ENSP00000489147.1:p.Ser1436=
ENST00000414786.6:n.4496C=
ENST00000445220.5:c.4290C=	ENSP00000489407.1:p.Ser1430=