Canonical Allele Identifier: CA2411007967

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721005C= , CM000684.2:g.50721005C=	GRCh38
NC_000022.10:g.51159433C= , CM000684.1:g.51159433C=	GRCh37
NC_000022.9:g.49506299C=	NCBI36
NG_008607.2:g.51651C=
NG_070230.1:g.56789C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2773C=	ENSP00000489147.2:p.Leu925=
ENST00000414786.7:n.3357C=
ENST00000445220.7:c.1825C=	ENSP00000489407.2:p.Leu609=
ENST00000664402.2:c.1315C=	ENSP00000499475.1:p.Leu439=
ENST00000673971.2:c.*1771C=	ENSP00000501192.1:n.*1771C=
ENST00000445220.6:c.1825C=	ENSP00000489407.2:p.Leu609=
ENST00000262795.6:c.2773C=	ENSP00000489147.2:p.Leu925=
ENST00000664402.1:c.1315C=	ENSP00000499475.1:p.Leu439=
ENST00000673971.1:c.*1771C=	ENSP00000501192.1:n.*1771C=
ENST00000262795.5:c.3169C=	ENSP00000489147.1:p.Leu1057=
ENST00000414786.6:n.3357C=
ENST00000445220.5:c.3151C=	ENSP00000489407.1:p.Leu1051=