Canonical Allele Identifier: CA915951512

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 817055
• ClinVar RCV Id: RCV001008134 ; RCV003485674
• dbSNP Id: rs1603447144

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721919_50721920del , CM000684.2:g.50721919_50721920del	GRCh38
NC_000022.10:g.51160347_51160348del , CM000684.1:g.51160347_51160348del	GRCh37
NC_000022.9:g.49507213_49507214del	NCBI36
NG_008607.2:g.52565_52566del
NG_070230.1:g.57703_57704del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3687_3688del	ENSP00000489147.2:p.Arg1230GlnfsTer?
ENST00000414786.7:n.4271_4272del
ENST00000445220.7:c.2739_2740del	ENSP00000489407.2:p.Arg914GlnfsTer?
ENST00000664402.2:c.2229_2230del	ENSP00000499475.1:p.Arg744GlnfsTer?
ENST00000673971.2:c.*2685_*2686del	ENSP00000501192.1:n.*2685_*2686del
ENST00000445220.6:c.2739_2740del	ENSP00000489407.2:p.Arg914GlnfsTer?
ENST00000262795.6:c.3687_3688del	ENSP00000489147.2:p.Arg1230GlnfsTer?
ENST00000664402.1:c.2229_2230del	ENSP00000499475.1:p.Arg744GlnfsTer?
ENST00000673971.1:c.*2685_*2686del	ENSP00000501192.1:n.*2685_*2686del
ENST00000262795.5:c.4083_4084del	ENSP00000489147.1:p.Arg1362GlnfsTer?
ENST00000414786.6:n.4271_4272del
ENST00000445220.5:c.4065_4066del	ENSP00000489407.1:p.Arg1356GlnfsTer?