Canonical Allele Identifier: CA2411008468

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721803G= , CM000684.2:g.50721803G=	GRCh38
NC_000022.10:g.51160231G= , CM000684.1:g.51160231G=	GRCh37
NC_000022.9:g.49507097G=	NCBI36
NG_008607.2:g.52449G=
NG_070230.1:g.57587G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3571G=	ENSP00000489147.2:p.Ala1191=
ENST00000414786.7:n.4155G=
ENST00000445220.7:c.2623G=	ENSP00000489407.2:p.Ala875=
ENST00000664402.2:c.2113G=	ENSP00000499475.1:p.Ala705=
ENST00000673971.2:c.*2569G=	ENSP00000501192.1:n.*2569G=
ENST00000445220.6:c.2623G=	ENSP00000489407.2:p.Ala875=
ENST00000262795.6:c.3571G=	ENSP00000489147.2:p.Ala1191=
ENST00000664402.1:c.2113G=	ENSP00000499475.1:p.Ala705=
ENST00000673971.1:c.*2569G=	ENSP00000501192.1:n.*2569G=
ENST00000262795.5:c.3967G=	ENSP00000489147.1:p.Ala1323=
ENST00000414786.6:n.4155G=
ENST00000445220.5:c.3949G=	ENSP00000489407.1:p.Ala1317=