Canonical Allele Identifier: CA2411008056

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721142C= , CM000684.2:g.50721142C=	GRCh38
NC_000022.10:g.51159570C= , CM000684.1:g.51159570C=	GRCh37
NC_000022.9:g.49506436C=	NCBI36
NG_008607.2:g.51788C=
NG_070230.1:g.56926C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2910C=	ENSP00000489147.2:p.Asp970=
ENST00000414786.7:n.3494C=
ENST00000445220.7:c.1962C=	ENSP00000489407.2:p.Asp654=
ENST00000664402.2:c.1452C=	ENSP00000499475.1:p.Asp484=
ENST00000673971.2:c.*1908C=	ENSP00000501192.1:n.*1908C=
ENST00000445220.6:c.1962C=	ENSP00000489407.2:p.Asp654=
ENST00000262795.6:c.2910C=	ENSP00000489147.2:p.Asp970=
ENST00000664402.1:c.1452C=	ENSP00000499475.1:p.Asp484=
ENST00000673971.1:c.*1908C=	ENSP00000501192.1:n.*1908C=
ENST00000262795.5:c.3306C=	ENSP00000489147.1:p.Asp1102=
ENST00000414786.6:n.3494C=
ENST00000445220.5:c.3288C=	ENSP00000489407.1:p.Asp1096=