Canonical Allele Identifier: CA2411007768

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720701G= , CM000684.2:g.50720701G=	GRCh38
NC_000022.10:g.51159129G= , CM000684.1:g.51159129G=	GRCh37
NC_000022.9:g.49505995G=	NCBI36
NG_008607.2:g.51347G=
NG_070230.1:g.56485G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2469G=	ENSP00000489147.2:p.Lys823=
ENST00000414786.7:n.3053G=
ENST00000445220.7:c.1521G=	ENSP00000489407.2:p.Lys507=
ENST00000664402.2:c.1011G=	ENSP00000499475.1:p.Lys337=
ENST00000673971.2:c.*1467G=	ENSP00000501192.1:n.*1467G=
ENST00000445220.6:c.1521G=	ENSP00000489407.2:p.Lys507=
ENST00000262795.6:c.2469G=	ENSP00000489147.2:p.Lys823=
ENST00000664402.1:c.1011G=	ENSP00000499475.1:p.Lys337=
ENST00000673971.1:c.*1467G=	ENSP00000501192.1:n.*1467G=
ENST00000262795.5:c.2865G=	ENSP00000489147.1:p.Lys955=
ENST00000414786.6:n.3053G=
ENST00000445220.5:c.2847G=	ENSP00000489407.1:p.Lys949=