Canonical Allele Identifier: CA10603393

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 279892
• ClinVar RCV Id: RCV000269712 ; RCV000845003 ; RCV001249687 ; RCV001257673 ; RCV001267260 ; RCV003128400
• dbSNP Id: rs886041238
• MyVariant Identifiers: chr22:g.51160025_51160037del (hg19) ; chr22:g.50721597_50721609del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721597_50721609del , CM000684.2:g.50721597_50721609del	GRCh38
NC_000022.10:g.51160025_51160037del , CM000684.1:g.51160025_51160037del	GRCh37
NC_000022.9:g.49506891_49506903del	NCBI36
NG_008607.2:g.52243_52255del
NG_070230.1:g.57381_57393del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.3365_3377del	ENSP00000489147.2:p.Arg1122LeufsTer25
ENST00000414786.7:n.3949_3961del
ENST00000445220.7:c.2417_2429del	ENSP00000489407.2:p.Arg806LeufsTer25
ENST00000664402.2:c.1907_1919del	ENSP00000499475.1:p.Arg636LeufsTer25
ENST00000673971.2:c.*2363_*2375del	ENSP00000501192.1:n.*2363_*2375del
ENST00000445220.6:c.2417_2429del	ENSP00000489407.2:p.Arg806LeufsTer25
ENST00000262795.6:c.3365_3377del	ENSP00000489147.2:p.Arg1122LeufsTer25
ENST00000664402.1:c.1907_1919del	ENSP00000499475.1:p.Arg636LeufsTer25
ENST00000673971.1:c.*2363_*2375del	ENSP00000501192.1:n.*2363_*2375del
ENST00000262795.5:c.3761_3773del	ENSP00000489147.1:p.Arg1254LeufsTer25
ENST00000414786.6:n.3949_3961del
ENST00000445220.5:c.3743_3755del	ENSP00000489407.1:p.Arg1248LeufsTer25