Canonical Allele Identifier: CA2410995618

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50698002C= , CM000684.2:g.50698002C=	GRCh38
NC_000022.10:g.51136430C= , CM000684.1:g.51136430C=	GRCh37
NC_000022.9:g.49483296C=	NCBI36
NG_008607.2:g.28648C=
NG_070230.1:g.33866C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1099+287C=	ENSP00000489147.2:n.1099+287C=
ENST00000414786.7:n.1683+287C=
ENST00000445220.7:c.151+287C=	ENSP00000489407.2:n.151+287C=
ENST00000673971.2:c.1456+287C=	ENSP00000501192.1:n.1456+287C=
ENST00000445220.6:c.151+287C=	ENSP00000489407.2:n.151+287C=
ENST00000262795.6:c.1099+287C=	ENSP00000489147.2:n.1099+287C=
ENST00000673838.1:n.4C=
ENST00000673971.1:c.1456+287C=	ENSP00000501192.1:n.1456+287C=
ENST00000673995.1:c.153-142C=
ENST00000674010.1:n.4C=
ENST00000674145.1:n.4C=
ENST00000262795.5:c.1495+287C=	ENSP00000489147.1:n.1495+287C=
ENST00000414786.6:n.1683+287C=
ENST00000445220.5:c.1477+287C=	ENSP00000489407.1:n.1477+287C=