Linked Data
ClinVar Variation Id:
53093
ClinVar RCV Id:
RCV000576986
dbSNP Id:
rs397508123
MyVariant Identifiers:
chr11:g.2593302_2593303delinsTC (hg19)
chr11:g.2572072_2572073delinsTC (hg38)
PubMed:
PMID:18441444
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572072_2572073delinsTC , CM000673.2:g.2572072_2572073delinsTC | GRCh38 |
| NC_000011.9:g.2593302_2593303delinsTC , CM000673.1:g.2593302_2593303delinsTC | GRCh37 |
| NC_000011.8:g.2549878_2549879delinsTC | NCBI36 |
| NG_008935.1:g.132082_132083delinsTC , LRG_287:g.132082_132083delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.482_483delinsTC | ENSP00000434560.2:p.Trp161Phe | |
| ENST00000646564.2:c.478-11363_478-11362delinsTC | ENSP00000495806.2:n.478-11363_478-11362delinsTC | |
| ENST00000155840.12:c.743_744delinsTC MANE Select | ENSP00000155840.2:p.Trp248Phe | |
| ENST00000335475.6:c.362_363delinsTC | ENSP00000334497.5:p.Trp121Phe | |
| ENST00000646564.1:c.124-11363_124-11362delinsTC | ENSP00000495806.1:n.124-11363_124-11362delinsTC | |
| ENST00000155840.9:c.743_744delinsTC | ENSP00000155840.2:p.Trp248Phe | |
| ENST00000335475.5:c.362_363delinsTC | ENSP00000334497.5:p.Trp121Phe | |
| ENST00000496887.6:c.482_483delinsTC | ENSP00000434560.1:p.Trp161Phe | |
| NM_000218.2:c.743_744delinsTC , LRG_287t1:c.743_744delinsTC | NP_000209.2:p.Trp248Phe | |
| NM_181798.1:c.362_363delinsTC , LRG_287t2:c.362_363delinsTC | NP_861463.1:p.Trp121Phe | |
| NM_000218.3:c.743_744delinsTC MANE Select | NP_000209.2:p.Trp248Phe |