Canonical Allele Identifier: CA2411008622

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722104A= , CM000684.2:g.50722104A=	GRCh38
NC_000022.10:g.51160532A= , CM000684.1:g.51160532A=	GRCh37
NC_000022.9:g.49507398A=	NCBI36
NG_008607.2:g.52750A=
NG_070230.1:g.57888A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3872A=	ENSP00000489147.2:p.Lys1291=
ENST00000414786.7:n.4456A=
ENST00000445220.7:c.2924A=	ENSP00000489407.2:p.Lys975=
ENST00000664402.2:c.2414A=	ENSP00000499475.1:p.Lys805=
ENST00000673971.2:c.*2870A=	ENSP00000501192.1:n.*2870A=
ENST00000445220.6:c.2924A=	ENSP00000489407.2:p.Lys975=
ENST00000262795.6:c.3872A=	ENSP00000489147.2:p.Lys1291=
ENST00000664402.1:c.2414A=	ENSP00000499475.1:p.Lys805=
ENST00000673971.1:c.*2870A=	ENSP00000501192.1:n.*2870A=
ENST00000262795.5:c.4268A=	ENSP00000489147.1:p.Lys1423=
ENST00000414786.6:n.4456A=
ENST00000445220.5:c.4250A=	ENSP00000489407.1:p.Lys1417=