Canonical Allele Identifier: CA2411008410

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721709C= , CM000684.2:g.50721709C=	GRCh38
NC_000022.10:g.51160137C= , CM000684.1:g.51160137C=	GRCh37
NC_000022.9:g.49507003C=	NCBI36
NG_008607.2:g.52355C=
NG_070230.1:g.57493C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3477C=	ENSP00000489147.2:p.Ser1159=
ENST00000414786.7:n.4061C=
ENST00000445220.7:c.2529C=	ENSP00000489407.2:p.Ser843=
ENST00000664402.2:c.2019C=	ENSP00000499475.1:p.Ser673=
ENST00000673971.2:c.*2475C=	ENSP00000501192.1:n.*2475C=
ENST00000445220.6:c.2529C=	ENSP00000489407.2:p.Ser843=
ENST00000262795.6:c.3477C=	ENSP00000489147.2:p.Ser1159=
ENST00000664402.1:c.2019C=	ENSP00000499475.1:p.Ser673=
ENST00000673971.1:c.*2475C=	ENSP00000501192.1:n.*2475C=
ENST00000262795.5:c.3873C=	ENSP00000489147.1:p.Ser1291=
ENST00000414786.6:n.4061C=
ENST00000445220.5:c.3855C=	ENSP00000489407.1:p.Ser1285=