Canonical Allele Identifier: CA2410995402

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697671A= , CM000684.2:g.50697671A=	GRCh38
NC_000022.10:g.51136099A= , CM000684.1:g.51136099A=	GRCh37
NC_000022.9:g.49482965A=	NCBI36
NG_008607.2:g.28317A=
NG_070230.1:g.33536A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1055A=	ENSP00000489147.2:p.Gln352=
ENST00000414786.7:n.1639A=
ENST00000445220.7:c.107A=	ENSP00000489407.2:p.Gln36=
ENST00000673971.2:c.1412A=	ENSP00000501192.1:p.Gln471=
ENST00000445220.6:c.107A=	ENSP00000489407.2:p.Gln36=
ENST00000262795.6:c.1055A=	ENSP00000489147.2:p.Gln352=
ENST00000673971.1:c.1412A=	ENSP00000501192.1:p.Gln471=
ENST00000673995.1:c.108A=
ENST00000262795.5:c.1451A=	ENSP00000489147.1:p.Gln484=
ENST00000414786.6:n.1639A=
ENST00000445220.5:c.1433A=	ENSP00000489407.1:p.Gln478=