Canonical Allele Identifier: CA2410996057

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50698797C= , CM000684.2:g.50698797C=	GRCh38
NC_000022.10:g.51137225C= , CM000684.1:g.51137225C=	GRCh37
NC_000022.9:g.49484091C=	NCBI36
NG_008607.2:g.29443C=
NG_070230.1:g.34661C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.5:c.1603C=	ENSP00000489147.1:p.Arg535=
ENST00000262795.6:c.1207C=	ENSP00000489147.2:p.Arg403=
ENST00000262795.7:c.1207C=	ENSP00000489147.2:p.Arg403=
ENST00000414786.6:n.1791C=
ENST00000414786.7:n.1791C=
ENST00000445220.5:c.1585C=	ENSP00000489407.1:p.Arg529=
ENST00000445220.6:c.259C=	ENSP00000489407.2:p.Arg87=
ENST00000445220.7:c.259C=	ENSP00000489407.2:p.Arg87=
ENST00000673838.1:n.232C=
ENST00000673971.1:c.1564C=	ENSP00000501192.1:p.Arg522=
ENST00000673971.2:c.1564C=	ENSP00000501192.1:p.Arg522=
ENST00000673995.1:c.459C=
ENST00000674010.1:n.452C=
ENST00000674145.1:n.799C=