Canonical Allele Identifier: CA2411008348

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721595C= , CM000684.2:g.50721595C=	GRCh38
NC_000022.10:g.51160023C= , CM000684.1:g.51160023C=	GRCh37
NC_000022.9:g.49506889C=	NCBI36
NG_008607.2:g.52241C=
NG_070230.1:g.57379C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3363C=	ENSP00000489147.2:p.Pro1121=
ENST00000414786.7:n.3947C=
ENST00000445220.7:c.2415C=	ENSP00000489407.2:p.Pro805=
ENST00000664402.2:c.1905C=	ENSP00000499475.1:p.Pro635=
ENST00000673971.2:c.*2361C=	ENSP00000501192.1:n.*2361C=
ENST00000445220.6:c.2415C=	ENSP00000489407.2:p.Pro805=
ENST00000262795.6:c.3363C=	ENSP00000489147.2:p.Pro1121=
ENST00000664402.1:c.1905C=	ENSP00000499475.1:p.Pro635=
ENST00000673971.1:c.*2361C=	ENSP00000501192.1:n.*2361C=
ENST00000262795.5:c.3759C=	ENSP00000489147.1:p.Pro1253=
ENST00000414786.6:n.3947C=
ENST00000445220.5:c.3741C=	ENSP00000489407.1:p.Pro1247=