Canonical Allele Identifier: CA2410995393

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697652G= , CM000684.2:g.50697652G=	GRCh38
NC_000022.10:g.51136080G= , CM000684.1:g.51136080G=	GRCh37
NC_000022.9:g.49482946G=	NCBI36
NG_008607.2:g.28298G=
NG_070230.1:g.33517G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1036G=	ENSP00000489147.2:p.Val346=
ENST00000414786.7:n.1620G=
ENST00000445220.7:c.88G=	ENSP00000489407.2:p.Val30=
ENST00000673971.2:c.1393G=	ENSP00000501192.1:p.Val465=
ENST00000445220.6:c.88G=	ENSP00000489407.2:p.Val30=
ENST00000262795.6:c.1036G=	ENSP00000489147.2:p.Val346=
ENST00000673971.1:c.1393G=	ENSP00000501192.1:p.Val465=
ENST00000673995.1:c.89G=
ENST00000262795.5:c.1432G=	ENSP00000489147.1:p.Val478=
ENST00000414786.6:n.1620G=
ENST00000445220.5:c.1414G=	ENSP00000489407.1:p.Val472=