Canonical Allele Identifier: CA2411007863

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720843G= , CM000684.2:g.50720843G=	GRCh38
NC_000022.10:g.51159271G= , CM000684.1:g.51159271G=	GRCh37
NC_000022.9:g.49506137G=	NCBI36
NG_008607.2:g.51489G=
NG_070230.1:g.56627G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2611G=	ENSP00000489147.2:p.Gly871=
ENST00000414786.7:n.3195G=
ENST00000445220.7:c.1663G=	ENSP00000489407.2:p.Gly555=
ENST00000664402.2:c.1153G=	ENSP00000499475.1:p.Gly385=
ENST00000673971.2:c.*1609G=	ENSP00000501192.1:n.*1609G=
ENST00000445220.6:c.1663G=	ENSP00000489407.2:p.Gly555=
ENST00000262795.6:c.2611G=	ENSP00000489147.2:p.Gly871=
ENST00000664402.1:c.1153G=	ENSP00000499475.1:p.Gly385=
ENST00000673971.1:c.*1609G=	ENSP00000501192.1:n.*1609G=
ENST00000262795.5:c.3007G=	ENSP00000489147.1:p.Gly1003=
ENST00000414786.6:n.3195G=
ENST00000445220.5:c.2989G=	ENSP00000489407.1:p.Gly997=