Canonical Allele Identifier: CA2410995391

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697649G= , CM000684.2:g.50697649G=	GRCh38
NC_000022.10:g.51136077G= , CM000684.1:g.51136077G=	GRCh37
NC_000022.9:g.49482943G=	NCBI36
NG_008607.2:g.28295G=
NG_070230.1:g.33514G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1033G=	ENSP00000489147.2:p.Ala345=
ENST00000414786.7:n.1617G=
ENST00000445220.7:c.85G=	ENSP00000489407.2:p.Ala29=
ENST00000673971.2:c.1390G=	ENSP00000501192.1:p.Ala464=
ENST00000445220.6:c.85G=	ENSP00000489407.2:p.Ala29=
ENST00000262795.6:c.1033G=	ENSP00000489147.2:p.Ala345=
ENST00000673971.1:c.1390G=	ENSP00000501192.1:p.Ala464=
ENST00000673995.1:c.86G=
ENST00000262795.5:c.1429G=	ENSP00000489147.1:p.Ala477=
ENST00000414786.6:n.1617G=
ENST00000445220.5:c.1411G=	ENSP00000489407.1:p.Ala471=