Canonical Allele Identifier: CA2411008612

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722090G= , CM000684.2:g.50722090G=	GRCh38
NC_000022.10:g.51160518G= , CM000684.1:g.51160518G=	GRCh37
NC_000022.9:g.49507384G=	NCBI36
NG_008607.2:g.52736G=
NG_070230.1:g.57874G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3858G=	ENSP00000489147.2:p.Lys1286=
ENST00000414786.7:n.4442G=
ENST00000445220.7:c.2910G=	ENSP00000489407.2:p.Lys970=
ENST00000664402.2:c.2400G=	ENSP00000499475.1:p.Lys800=
ENST00000673971.2:c.*2856G=	ENSP00000501192.1:n.*2856G=
ENST00000445220.6:c.2910G=	ENSP00000489407.2:p.Lys970=
ENST00000262795.6:c.3858G=	ENSP00000489147.2:p.Lys1286=
ENST00000664402.1:c.2400G=	ENSP00000499475.1:p.Lys800=
ENST00000673971.1:c.*2856G=	ENSP00000501192.1:n.*2856G=
ENST00000262795.5:c.4254G=	ENSP00000489147.1:p.Lys1418=
ENST00000414786.6:n.4442G=
ENST00000445220.5:c.4236G=	ENSP00000489407.1:p.Lys1412=