Canonical Allele Identifier: CA2411007785

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720738C= , CM000684.2:g.50720738C=	GRCh38
NC_000022.10:g.51159166C= , CM000684.1:g.51159166C=	GRCh37
NC_000022.9:g.49506032C=	NCBI36
NG_008607.2:g.51384C=
NG_070230.1:g.56522C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2506C=	ENSP00000489147.2:p.Leu836=
ENST00000414786.7:n.3090C=
ENST00000445220.7:c.1558C=	ENSP00000489407.2:p.Leu520=
ENST00000664402.2:c.1048C=	ENSP00000499475.1:p.Leu350=
ENST00000673971.2:c.*1504C=	ENSP00000501192.1:n.*1504C=
ENST00000445220.6:c.1558C=	ENSP00000489407.2:p.Leu520=
ENST00000262795.6:c.2506C=	ENSP00000489147.2:p.Leu836=
ENST00000664402.1:c.1048C=	ENSP00000499475.1:p.Leu350=
ENST00000673971.1:c.*1504C=	ENSP00000501192.1:n.*1504C=
ENST00000262795.5:c.2902C=	ENSP00000489147.1:p.Leu968=
ENST00000414786.6:n.3090C=
ENST00000445220.5:c.2884C=	ENSP00000489407.1:p.Leu962=