Canonical Allele Identifier: CA2411013141

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50731039G= , CM000684.2:g.50731039G=	GRCh38
NC_000022.10:g.51169467G= , CM000684.1:g.51169467G=	GRCh37
NC_000022.9:g.49516333G=	NCBI36
NG_008607.2:g.61685G=
NG_070230.1:g.66823G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4551G=	ENSP00000489147.2:p.Pro1517=
ENST00000414786.7:n.5135G=
ENST00000445220.7:c.3603G=	ENSP00000489407.2:p.Pro1201=
ENST00000664402.2:c.3093G=	ENSP00000499475.1:p.Pro1031=
ENST00000673971.2:c.*3549G=	ENSP00000501192.1:n.*3549G=
ENST00000445220.6:c.3603G=	ENSP00000489407.2:p.Pro1201=
ENST00000262795.6:c.4551G=	ENSP00000489147.2:p.Pro1517=
ENST00000659388.1:c.366G=	ENSP00000499632.1:p.Pro122=
ENST00000664402.1:c.3093G=	ENSP00000499475.1:p.Pro1031=
ENST00000673971.1:c.*3549G=	ENSP00000501192.1:n.*3549G=
ENST00000262795.5:c.4920G=	ENSP00000489147.1:p.Pro1640=
ENST00000414786.6:n.5135G=
ENST00000445220.5:c.4902G=	ENSP00000489407.1:p.Pro1634=