Canonical Allele Identifier: CA2411007943

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720963C= , CM000684.2:g.50720963C=	GRCh38
NC_000022.10:g.51159391C= , CM000684.1:g.51159391C=	GRCh37
NC_000022.9:g.49506257C=	NCBI36
NG_008607.2:g.51609C=
NG_070230.1:g.56747C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2731C=	ENSP00000489147.2:p.Leu911=
ENST00000414786.7:n.3315C=
ENST00000445220.7:c.1783C=	ENSP00000489407.2:p.Leu595=
ENST00000664402.2:c.1273C=	ENSP00000499475.1:p.Leu425=
ENST00000673971.2:c.*1729C=	ENSP00000501192.1:n.*1729C=
ENST00000445220.6:c.1783C=	ENSP00000489407.2:p.Leu595=
ENST00000262795.6:c.2731C=	ENSP00000489147.2:p.Leu911=
ENST00000664402.1:c.1273C=	ENSP00000499475.1:p.Leu425=
ENST00000673971.1:c.*1729C=	ENSP00000501192.1:n.*1729C=
ENST00000262795.5:c.3127C=	ENSP00000489147.1:p.Leu1043=
ENST00000414786.6:n.3315C=
ENST00000445220.5:c.3109C=	ENSP00000489407.1:p.Leu1037=