Canonical Allele Identifier: CA2411008171

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721323C= , CM000684.2:g.50721323C=	GRCh38
NC_000022.10:g.51159751C= , CM000684.1:g.51159751C=	GRCh37
NC_000022.9:g.49506617C=	NCBI36
NG_008607.2:g.51969C=
NG_070230.1:g.57107C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3091C=	ENSP00000489147.2:p.Arg1031=
ENST00000414786.7:n.3675C=
ENST00000445220.7:c.2143C=	ENSP00000489407.2:p.Arg715=
ENST00000664402.2:c.1633C=	ENSP00000499475.1:p.Arg545=
ENST00000673971.2:c.*2089C=	ENSP00000501192.1:n.*2089C=
ENST00000445220.6:c.2143C=	ENSP00000489407.2:p.Arg715=
ENST00000262795.6:c.3091C=	ENSP00000489147.2:p.Arg1031=
ENST00000664402.1:c.1633C=	ENSP00000499475.1:p.Arg545=
ENST00000673971.1:c.*2089C=	ENSP00000501192.1:n.*2089C=
ENST00000262795.5:c.3487C=	ENSP00000489147.1:p.Arg1163=
ENST00000414786.6:n.3675C=
ENST00000445220.5:c.3469C=	ENSP00000489407.1:p.Arg1157=