Canonical Allele Identifier: CA2411008190

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721355C= , CM000684.2:g.50721355C=	GRCh38
NC_000022.10:g.51159783C= , CM000684.1:g.51159783C=	GRCh37
NC_000022.9:g.49506649C=	NCBI36
NG_008607.2:g.52001C=
NG_070230.1:g.57139C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3123C=	ENSP00000489147.2:p.Arg1041=
ENST00000414786.7:n.3707C=
ENST00000445220.7:c.2175C=	ENSP00000489407.2:p.Arg725=
ENST00000664402.2:c.1665C=	ENSP00000499475.1:p.Arg555=
ENST00000673971.2:c.*2121C=	ENSP00000501192.1:n.*2121C=
ENST00000445220.6:c.2175C=	ENSP00000489407.2:p.Arg725=
ENST00000262795.6:c.3123C=	ENSP00000489147.2:p.Arg1041=
ENST00000664402.1:c.1665C=	ENSP00000499475.1:p.Arg555=
ENST00000673971.1:c.*2121C=	ENSP00000501192.1:n.*2121C=
ENST00000262795.5:c.3519C=	ENSP00000489147.1:p.Arg1173=
ENST00000414786.6:n.3707C=
ENST00000445220.5:c.3501C=	ENSP00000489407.1:p.Arg1167=