Canonical Allele Identifier: CA2410995409

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697689C= , CM000684.2:g.50697689C=	GRCh38
NC_000022.10:g.51136117C= , CM000684.1:g.51136117C=	GRCh37
NC_000022.9:g.49482983C=	NCBI36
NG_008607.2:g.28335C=
NG_070230.1:g.33554C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1073C=	ENSP00000489147.2:p.Pro358=
ENST00000414786.7:n.1657C=
ENST00000445220.7:c.125C=	ENSP00000489407.2:p.Pro42=
ENST00000673971.2:c.1430C=	ENSP00000501192.1:p.Pro477=
ENST00000445220.6:c.125C=	ENSP00000489407.2:p.Pro42=
ENST00000262795.6:c.1073C=	ENSP00000489147.2:p.Pro358=
ENST00000673971.1:c.1430C=	ENSP00000501192.1:p.Pro477=
ENST00000673995.1:c.126C=
ENST00000262795.5:c.1469C=	ENSP00000489147.1:p.Pro490=
ENST00000414786.6:n.1657C=
ENST00000445220.5:c.1451C=	ENSP00000489407.1:p.Pro484=