Canonical Allele Identifier: CA2411008615

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722095C= , CM000684.2:g.50722095C=	GRCh38
NC_000022.10:g.51160523C= , CM000684.1:g.51160523C=	GRCh37
NC_000022.9:g.49507389C=	NCBI36
NG_008607.2:g.52741C=
NG_070230.1:g.57879C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3863C=	ENSP00000489147.2:p.Pro1288=
ENST00000414786.7:n.4447C=
ENST00000445220.7:c.2915C=	ENSP00000489407.2:p.Pro972=
ENST00000664402.2:c.2405C=	ENSP00000499475.1:p.Pro802=
ENST00000673971.2:c.*2861C=	ENSP00000501192.1:n.*2861C=
ENST00000445220.6:c.2915C=	ENSP00000489407.2:p.Pro972=
ENST00000262795.6:c.3863C=	ENSP00000489147.2:p.Pro1288=
ENST00000664402.1:c.2405C=	ENSP00000499475.1:p.Pro802=
ENST00000673971.1:c.*2861C=	ENSP00000501192.1:n.*2861C=
ENST00000262795.5:c.4259C=	ENSP00000489147.1:p.Pro1420=
ENST00000414786.6:n.4447C=
ENST00000445220.5:c.4241C=	ENSP00000489407.1:p.Pro1414=