Linked Data
ClinVar Variation Id:
7562
ClinVar RCV Id:
RCV000007998
dbSNP Id:
rs137853085
ExAC:
11:763391 TCTC / T
gnomAD v2:
11-763391-TCTC-T
gnomAD v4:
11-763391-TCTC-T
MyVariant Identifiers:
chr11:g.763393_763395del (hg19)
chr11:g.763392_763394del (hg19)
chr11:g.763393_763395del (hg38)
chr11:g.763392_763394del (hg38)
PubMed:
PMID:11283793
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.763394_763396del , CM000673.2:g.763394_763396del | GRCh38 |
| NC_000011.9:g.763394_763396del , CM000673.1:g.763394_763396del | GRCh37 |
| NC_000011.8:g.753394_753396del | NCBI36 |
| NG_008160.1:g.20963_20965del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000319006.8:c.512_514del MANE Select | ENSP00000321259.3:p.Ser171del | |
| ENST00000319006.7:c.512_514del | ENSP00000321259.3:p.Ser171del | |
| ENST00000528070.5:c.*510_*512del | ENSP00000435042.1:n.*510_*512del | |
| ENST00000528097.5:c.512_514del | ENSP00000437098.1:p.Ser171del | |
| ENST00000530440.1:c.*171_*173del | ENSP00000433501.1:n.*171_*173del | |
| NM_006755.1:c.512_514del | NP_006746.1:p.Ser171del | |
| NM_006755.2:c.512_514del MANE Select | NP_006746.1:p.Ser171del |