Canonical Allele Identifier: CA2411008607

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722081C= , CM000684.2:g.50722081C=	GRCh38
NC_000022.10:g.51160509C= , CM000684.1:g.51160509C=	GRCh37
NC_000022.9:g.49507375C=	NCBI36
NG_008607.2:g.52727C=
NG_070230.1:g.57865C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3849C=	ENSP00000489147.2:p.Pro1283=
ENST00000414786.7:n.4433C=
ENST00000445220.7:c.2901C=	ENSP00000489407.2:p.Pro967=
ENST00000664402.2:c.2391C=	ENSP00000499475.1:p.Pro797=
ENST00000673971.2:c.*2847C=	ENSP00000501192.1:n.*2847C=
ENST00000445220.6:c.2901C=	ENSP00000489407.2:p.Pro967=
ENST00000262795.6:c.3849C=	ENSP00000489147.2:p.Pro1283=
ENST00000664402.1:c.2391C=	ENSP00000499475.1:p.Pro797=
ENST00000673971.1:c.*2847C=	ENSP00000501192.1:n.*2847C=
ENST00000262795.5:c.4245C=	ENSP00000489147.1:p.Pro1415=
ENST00000414786.6:n.4433C=
ENST00000445220.5:c.4227C=	ENSP00000489407.1:p.Pro1409=