Canonical Allele Identifier: CA915951511

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 817496
• ClinVar RCV Id: RCV001008627
• dbSNP Id: rs1603447139

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721768_50721769del , CM000684.2:g.50721768_50721769del	GRCh38
NC_000022.10:g.51160196_51160197del , CM000684.1:g.51160196_51160197del	GRCh37
NC_000022.9:g.49507062_49507063del	NCBI36
NG_008607.2:g.52414_52415del
NG_070230.1:g.57552_57553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3536_3537del	ENSP00000489147.2:p.Glu1179ValfsTer?
ENST00000414786.7:n.4120_4121del
ENST00000445220.7:c.2588_2589del	ENSP00000489407.2:p.Glu863ValfsTer?
ENST00000664402.2:c.2078_2079del	ENSP00000499475.1:p.Glu693ValfsTer?
ENST00000673971.2:c.*2534_*2535del	ENSP00000501192.1:n.*2534_*2535del
ENST00000445220.6:c.2588_2589del	ENSP00000489407.2:p.Glu863ValfsTer?
ENST00000262795.6:c.3536_3537del	ENSP00000489147.2:p.Glu1179ValfsTer?
ENST00000664402.1:c.2078_2079del	ENSP00000499475.1:p.Glu693ValfsTer?
ENST00000673971.1:c.*2534_*2535del	ENSP00000501192.1:n.*2534_*2535del
ENST00000262795.5:c.3932_3933del	ENSP00000489147.1:p.Glu1311ValfsTer?
ENST00000414786.6:n.4120_4121del
ENST00000445220.5:c.3914_3915del	ENSP00000489407.1:p.Glu1305ValfsTer?