Canonical Allele Identifier: CA2411008273

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721489A= , CM000684.2:g.50721489A=	GRCh38
NC_000022.10:g.51159917A= , CM000684.1:g.51159917A=	GRCh37
NC_000022.9:g.49506783A=	NCBI36
NG_008607.2:g.52135A=
NG_070230.1:g.57273A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3257A=	ENSP00000489147.2:p.Gln1086=
ENST00000414786.7:n.3841A=
ENST00000445220.7:c.2309A=	ENSP00000489407.2:p.Gln770=
ENST00000664402.2:c.1799A=	ENSP00000499475.1:p.Gln600=
ENST00000673971.2:c.*2255A=	ENSP00000501192.1:n.*2255A=
ENST00000445220.6:c.2309A=	ENSP00000489407.2:p.Gln770=
ENST00000262795.6:c.3257A=	ENSP00000489147.2:p.Gln1086=
ENST00000664402.1:c.1799A=	ENSP00000499475.1:p.Gln600=
ENST00000673971.1:c.*2255A=	ENSP00000501192.1:n.*2255A=
ENST00000262795.5:c.3653A=	ENSP00000489147.1:p.Gln1218=
ENST00000414786.6:n.3841A=
ENST00000445220.5:c.3635A=	ENSP00000489407.1:p.Gln1212=