Canonical Allele Identifier: CA2411008542

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721934C= , CM000684.2:g.50721934C=	GRCh38
NC_000022.10:g.51160362C= , CM000684.1:g.51160362C=	GRCh37
NC_000022.9:g.49507228C=	NCBI36
NG_008607.2:g.52580C=
NG_070230.1:g.57718C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3702C=	ENSP00000489147.2:p.Asp1234=
ENST00000414786.7:n.4286C=
ENST00000445220.7:c.2754C=	ENSP00000489407.2:p.Asp918=
ENST00000664402.2:c.2244C=	ENSP00000499475.1:p.Asp748=
ENST00000673971.2:c.*2700C=	ENSP00000501192.1:n.*2700C=
ENST00000445220.6:c.2754C=	ENSP00000489407.2:p.Asp918=
ENST00000262795.6:c.3702C=	ENSP00000489147.2:p.Asp1234=
ENST00000664402.1:c.2244C=	ENSP00000499475.1:p.Asp748=
ENST00000673971.1:c.*2700C=	ENSP00000501192.1:n.*2700C=
ENST00000262795.5:c.4098C=	ENSP00000489147.1:p.Asp1366=
ENST00000414786.6:n.4286C=
ENST00000445220.5:c.4080C=	ENSP00000489407.1:p.Asp1360=