Canonical Allele Identifier: CA2411008513

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721880T= , CM000684.2:g.50721880T=	GRCh38
NC_000022.10:g.51160308T= , CM000684.1:g.51160308T=	GRCh37
NC_000022.9:g.49507174T=	NCBI36
NG_008607.2:g.52526T=
NG_070230.1:g.57664T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3648T=	ENSP00000489147.2:p.Pro1216=
ENST00000414786.7:n.4232T=
ENST00000445220.7:c.2700T=	ENSP00000489407.2:p.Pro900=
ENST00000664402.2:c.2190T=	ENSP00000499475.1:p.Pro730=
ENST00000673971.2:c.*2646T=	ENSP00000501192.1:n.*2646T=
ENST00000445220.6:c.2700T=	ENSP00000489407.2:p.Pro900=
ENST00000262795.6:c.3648T=	ENSP00000489147.2:p.Pro1216=
ENST00000664402.1:c.2190T=	ENSP00000499475.1:p.Pro730=
ENST00000673971.1:c.*2646T=	ENSP00000501192.1:n.*2646T=
ENST00000262795.5:c.4044T=	ENSP00000489147.1:p.Pro1348=
ENST00000414786.6:n.4232T=
ENST00000445220.5:c.4026T=	ENSP00000489407.1:p.Pro1342=