Canonical Allele Identifier: CA2411008323

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721556C= , CM000684.2:g.50721556C=	GRCh38
NC_000022.10:g.51159984C= , CM000684.1:g.51159984C=	GRCh37
NC_000022.9:g.49506850C=	NCBI36
NG_008607.2:g.52202C=
NG_070230.1:g.57340C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3324C=	ENSP00000489147.2:p.Pro1108=
ENST00000414786.7:n.3908C=
ENST00000445220.7:c.2376C=	ENSP00000489407.2:p.Pro792=
ENST00000664402.2:c.1866C=	ENSP00000499475.1:p.Pro622=
ENST00000673971.2:c.*2322C=	ENSP00000501192.1:n.*2322C=
ENST00000445220.6:c.2376C=	ENSP00000489407.2:p.Pro792=
ENST00000262795.6:c.3324C=	ENSP00000489147.2:p.Pro1108=
ENST00000664402.1:c.1866C=	ENSP00000499475.1:p.Pro622=
ENST00000673971.1:c.*2322C=	ENSP00000501192.1:n.*2322C=
ENST00000262795.5:c.3720C=	ENSP00000489147.1:p.Pro1240=
ENST00000414786.6:n.3908C=
ENST00000445220.5:c.3702C=	ENSP00000489407.1:p.Pro1234=