Canonical Allele Identifier: CA2411007798

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720753C= , CM000684.2:g.50720753C=	GRCh38
NC_000022.10:g.51159181C= , CM000684.1:g.51159181C=	GRCh37
NC_000022.9:g.49506047C=	NCBI36
NG_008607.2:g.51399C=
NG_070230.1:g.56537C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2521C=	ENSP00000489147.2:p.Pro841=
ENST00000414786.7:n.3105C=
ENST00000445220.7:c.1573C=	ENSP00000489407.2:p.Pro525=
ENST00000664402.2:c.1063C=	ENSP00000499475.1:p.Pro355=
ENST00000673971.2:c.*1519C=	ENSP00000501192.1:n.*1519C=
ENST00000445220.6:c.1573C=	ENSP00000489407.2:p.Pro525=
ENST00000262795.6:c.2521C=	ENSP00000489147.2:p.Pro841=
ENST00000664402.1:c.1063C=	ENSP00000499475.1:p.Pro355=
ENST00000673971.1:c.*1519C=	ENSP00000501192.1:n.*1519C=
ENST00000262795.5:c.2917C=	ENSP00000489147.1:p.Pro973=
ENST00000414786.6:n.3105C=
ENST00000445220.5:c.2899C=	ENSP00000489407.1:p.Pro967=