Canonical Allele Identifier: CA2411008219

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721403C= , CM000684.2:g.50721403C=	GRCh38
NC_000022.10:g.51159831C= , CM000684.1:g.51159831C=	GRCh37
NC_000022.9:g.49506697C=	NCBI36
NG_008607.2:g.52049C=
NG_070230.1:g.57187C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3171C=	ENSP00000489147.2:p.Asp1057=
ENST00000414786.7:n.3755C=
ENST00000445220.7:c.2223C=	ENSP00000489407.2:p.Asp741=
ENST00000664402.2:c.1713C=	ENSP00000499475.1:p.Asp571=
ENST00000673971.2:c.*2169C=	ENSP00000501192.1:n.*2169C=
ENST00000445220.6:c.2223C=	ENSP00000489407.2:p.Asp741=
ENST00000262795.6:c.3171C=	ENSP00000489147.2:p.Asp1057=
ENST00000664402.1:c.1713C=	ENSP00000499475.1:p.Asp571=
ENST00000673971.1:c.*2169C=	ENSP00000501192.1:n.*2169C=
ENST00000262795.5:c.3567C=	ENSP00000489147.1:p.Asp1189=
ENST00000414786.6:n.3755C=
ENST00000445220.5:c.3549C=	ENSP00000489407.1:p.Asp1183=