Canonical Allele Identifier: CA2411008247

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721451A= , CM000684.2:g.50721451A=	GRCh38
NC_000022.10:g.51159879A= , CM000684.1:g.51159879A=	GRCh37
NC_000022.9:g.49506745A=	NCBI36
NG_008607.2:g.52097A=
NG_070230.1:g.57235A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3219A=	ENSP00000489147.2:p.Pro1073=
ENST00000414786.7:n.3803A=
ENST00000445220.7:c.2271A=	ENSP00000489407.2:p.Pro757=
ENST00000664402.2:c.1761A=	ENSP00000499475.1:p.Pro587=
ENST00000673971.2:c.*2217A=	ENSP00000501192.1:n.*2217A=
ENST00000445220.6:c.2271A=	ENSP00000489407.2:p.Pro757=
ENST00000262795.6:c.3219A=	ENSP00000489147.2:p.Pro1073=
ENST00000664402.1:c.1761A=	ENSP00000499475.1:p.Pro587=
ENST00000673971.1:c.*2217A=	ENSP00000501192.1:n.*2217A=
ENST00000262795.5:c.3615A=	ENSP00000489147.1:p.Pro1205=
ENST00000414786.6:n.3803A=
ENST00000445220.5:c.3597A=	ENSP00000489407.1:p.Pro1199=