Canonical Allele Identifier: CA2411013146

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50731050C= , CM000684.2:g.50731050C=	GRCh38
NC_000022.10:g.51169478C= , CM000684.1:g.51169478C=	GRCh37
NC_000022.9:g.49516344C=	NCBI36
NG_008607.2:g.61696C=
NG_070230.1:g.66834C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4562C=	ENSP00000489147.2:p.Pro1521=
ENST00000414786.7:n.5146C=
ENST00000445220.7:c.3614C=	ENSP00000489407.2:p.Pro1205=
ENST00000664402.2:c.3104C=	ENSP00000499475.1:p.Pro1035=
ENST00000673971.2:c.*3560C=	ENSP00000501192.1:n.*3560C=
ENST00000445220.6:c.3614C=	ENSP00000489407.2:p.Pro1205=
ENST00000262795.6:c.4562C=	ENSP00000489147.2:p.Pro1521=
ENST00000659388.1:c.377C=	ENSP00000499632.1:p.Pro126=
ENST00000664402.1:c.3104C=	ENSP00000499475.1:p.Pro1035=
ENST00000673971.1:c.*3560C=	ENSP00000501192.1:n.*3560C=
ENST00000262795.5:c.4931C=	ENSP00000489147.1:p.Pro1644=
ENST00000414786.6:n.5146C=
ENST00000445220.5:c.4913C=	ENSP00000489407.1:p.Pro1638=