Canonical Allele Identifier: CA2410995388

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697638G= , CM000684.2:g.50697638G=	GRCh38
NC_000022.10:g.51136066G= , CM000684.1:g.51136066G=	GRCh37
NC_000022.9:g.49482932G=	NCBI36
NG_008607.2:g.28284G=
NG_070230.1:g.33503G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1022G=	ENSP00000489147.2:p.Arg341=
ENST00000414786.7:n.1606G=
ENST00000445220.7:c.74G=	ENSP00000489407.2:p.Arg25=
ENST00000673971.2:c.1379G=	ENSP00000501192.1:p.Arg460=
ENST00000445220.6:c.74G=	ENSP00000489407.2:p.Arg25=
ENST00000262795.6:c.1022G=	ENSP00000489147.2:p.Arg341=
ENST00000673971.1:c.1379G=	ENSP00000501192.1:p.Arg460=
ENST00000673995.1:c.75G=
ENST00000262795.5:c.1418G=	ENSP00000489147.1:p.Arg473=
ENST00000414786.6:n.1606G=
ENST00000445220.5:c.1400G=	ENSP00000489407.1:p.Arg467=