Canonical Allele Identifier: CA2411008161

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721310G= , CM000684.2:g.50721310G=	GRCh38
NC_000022.10:g.51159738G= , CM000684.1:g.51159738G=	GRCh37
NC_000022.9:g.49506604G=	NCBI36
NG_008607.2:g.51956G=
NG_070230.1:g.57094G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3078G=	ENSP00000489147.2:p.Pro1026=
ENST00000414786.7:n.3662G=
ENST00000445220.7:c.2130G=	ENSP00000489407.2:p.Pro710=
ENST00000664402.2:c.1620G=	ENSP00000499475.1:p.Pro540=
ENST00000673971.2:c.*2076G=	ENSP00000501192.1:n.*2076G=
ENST00000445220.6:c.2130G=	ENSP00000489407.2:p.Pro710=
ENST00000262795.6:c.3078G=	ENSP00000489147.2:p.Pro1026=
ENST00000664402.1:c.1620G=	ENSP00000499475.1:p.Pro540=
ENST00000673971.1:c.*2076G=	ENSP00000501192.1:n.*2076G=
ENST00000262795.5:c.3474G=	ENSP00000489147.1:p.Pro1158=
ENST00000414786.6:n.3662G=
ENST00000445220.5:c.3456G=	ENSP00000489407.1:p.Pro1152=