Canonical Allele Identifier: CA2740092006

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 3062260
• ClinVar RCV Id: RCV003985982

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720894del , CM000684.2:g.50720894del	GRCh38
NC_000022.10:g.51159322del , CM000684.1:g.51159322del	GRCh37
NC_000022.9:g.49506188del	NCBI36
NG_008607.2:g.51540del
NG_070230.1:g.56678del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2662del	ENSP00000489147.2:p.Glu888ArgfsTer?
ENST00000414786.7:n.3246del
ENST00000445220.7:c.1714del	ENSP00000489407.2:p.Glu572ArgfsTer?
ENST00000664402.2:c.1204del	ENSP00000499475.1:p.Glu402ArgfsTer?
ENST00000673971.2:c.*1660del	ENSP00000501192.1:n.*1660del
ENST00000445220.6:c.1714del	ENSP00000489407.2:p.Glu572ArgfsTer?
ENST00000262795.6:c.2662del	ENSP00000489147.2:p.Glu888ArgfsTer?
ENST00000664402.1:c.1204del	ENSP00000499475.1:p.Glu402ArgfsTer?
ENST00000673971.1:c.*1660del	ENSP00000501192.1:n.*1660del
ENST00000262795.5:c.3058del	ENSP00000489147.1:p.Glu1020ArgfsTer?
ENST00000414786.6:n.3246del
ENST00000445220.5:c.3040del	ENSP00000489407.1:p.Glu1014ArgfsTer?