Canonical Allele Identifier: CA2411007869

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720852C= , CM000684.2:g.50720852C=	GRCh38
NC_000022.10:g.51159280C= , CM000684.1:g.51159280C=	GRCh37
NC_000022.9:g.49506146C=	NCBI36
NG_008607.2:g.51498C=
NG_070230.1:g.56636C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2620C=	ENSP00000489147.2:p.Leu874=
ENST00000414786.7:n.3204C=
ENST00000445220.7:c.1672C=	ENSP00000489407.2:p.Leu558=
ENST00000664402.2:c.1162C=	ENSP00000499475.1:p.Leu388=
ENST00000673971.2:c.*1618C=	ENSP00000501192.1:n.*1618C=
ENST00000445220.6:c.1672C=	ENSP00000489407.2:p.Leu558=
ENST00000262795.6:c.2620C=	ENSP00000489147.2:p.Leu874=
ENST00000664402.1:c.1162C=	ENSP00000499475.1:p.Leu388=
ENST00000673971.1:c.*1618C=	ENSP00000501192.1:n.*1618C=
ENST00000262795.5:c.3016C=	ENSP00000489147.1:p.Leu1006=
ENST00000414786.6:n.3204C=
ENST00000445220.5:c.2998C=	ENSP00000489407.1:p.Leu1000=