Canonical Allele Identifier: CA2411008064

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721164G= , CM000684.2:g.50721164G=	GRCh38
NC_000022.10:g.51159592G= , CM000684.1:g.51159592G=	GRCh37
NC_000022.9:g.49506458G=	NCBI36
NG_008607.2:g.51810G=
NG_070230.1:g.56948G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2932G=	ENSP00000489147.2:p.Ala978=
ENST00000414786.7:n.3516G=
ENST00000445220.7:c.1984G=	ENSP00000489407.2:p.Ala662=
ENST00000664402.2:c.1474G=	ENSP00000499475.1:p.Ala492=
ENST00000673971.2:c.*1930G=	ENSP00000501192.1:n.*1930G=
ENST00000445220.6:c.1984G=	ENSP00000489407.2:p.Ala662=
ENST00000262795.6:c.2932G=	ENSP00000489147.2:p.Ala978=
ENST00000664402.1:c.1474G=	ENSP00000499475.1:p.Ala492=
ENST00000673971.1:c.*1930G=	ENSP00000501192.1:n.*1930G=
ENST00000262795.5:c.3328G=	ENSP00000489147.1:p.Ala1110=
ENST00000414786.6:n.3516G=
ENST00000445220.5:c.3310G=	ENSP00000489407.1:p.Ala1104=