Canonical Allele Identifier: CA2411008444

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721776A= , CM000684.2:g.50721776A=	GRCh38
NC_000022.10:g.51160204A= , CM000684.1:g.51160204A=	GRCh37
NC_000022.9:g.49507070A=	NCBI36
NG_008607.2:g.52422A=
NG_070230.1:g.57560A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3544A=	ENSP00000489147.2:p.Asn1182=
ENST00000414786.7:n.4128A=
ENST00000445220.7:c.2596A=	ENSP00000489407.2:p.Asn866=
ENST00000664402.2:c.2086A=	ENSP00000499475.1:p.Asn696=
ENST00000673971.2:c.*2542A=	ENSP00000501192.1:n.*2542A=
ENST00000445220.6:c.2596A=	ENSP00000489407.2:p.Asn866=
ENST00000262795.6:c.3544A=	ENSP00000489147.2:p.Asn1182=
ENST00000664402.1:c.2086A=	ENSP00000499475.1:p.Asn696=
ENST00000673971.1:c.*2542A=	ENSP00000501192.1:n.*2542A=
ENST00000262795.5:c.3940A=	ENSP00000489147.1:p.Asn1314=
ENST00000414786.6:n.4128A=
ENST00000445220.5:c.3922A=	ENSP00000489407.1:p.Asn1308=