Canonical Allele Identifier: CA2410995376

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697608A= , CM000684.2:g.50697608A=	GRCh38
NC_000022.10:g.51136036A= , CM000684.1:g.51136036A=	GRCh37
NC_000022.9:g.49482902A=	NCBI36
NG_008607.2:g.28254A=
NG_070230.1:g.33473A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.992A=	ENSP00000489147.2:p.Lys331=
ENST00000414786.7:n.1576A=
ENST00000445220.7:c.44A=	ENSP00000489407.2:p.Lys15=
ENST00000673971.2:c.1349A=	ENSP00000501192.1:p.Lys450=
ENST00000445220.6:c.44A=	ENSP00000489407.2:p.Lys15=
ENST00000262795.6:c.992A=	ENSP00000489147.2:p.Lys331=
ENST00000673971.1:c.1349A=	ENSP00000501192.1:p.Lys450=
ENST00000673995.1:c.45A=
ENST00000262795.5:c.1388A=	ENSP00000489147.1:p.Lys463=
ENST00000414786.6:n.1576A=
ENST00000445220.5:c.1370A=	ENSP00000489407.1:p.Lys457=