Linked Data
ClinVar Variation Id:
38371
ClinVar RCV Id:
RCV000031925
dbSNP Id:
rs281864923
gnomAD v2:
11-20622989-GC-G
gnomAD v3:
11-20601443-GC-G
gnomAD v4:
11-20601443-GC-G
MyVariant Identifiers:
chr11:g.20622994del (hg19)
chr11:g.20622990del (hg19)
chr11:g.20601448del (hg38)
chr11:g.20601444del (hg38)
PubMed:
PMID:20301437
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20601448del , CM000673.2:g.20601448del | GRCh38 |
| NC_000011.9:g.20622994del , CM000673.1:g.20622994del | GRCh37 |
| NC_000011.8:g.20579570del | NCBI36 |
| NG_013086.1:g.7049del | |
| NG_013086.2:g.7049del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525748.6:c.323del MANE Select | ENSP00000434364.2:p.Pro108LeufsTer27 | |
| ENST00000298923.11:c.323del | ENSP00000298923.7:p.Pro108LeufsTer27 | |
| ENST00000525748.5:c.323del | ENSP00000434364.1:p.Pro108LeufsTer27 | |
| NM_004211.3:c.323del | NP_004202.2:p.Pro108LeufsTer27 | |
| XM_005253225.1:c.-241del | XP_005253282.1:n.-241del | |
| XM_011520473.1:c.323del | XP_011518775.1:p.Pro108LeufsTer27 | |
| NM_001318369.1:c.-241del | NP_001305298.1:n.-241del | |
| NM_004211.4:c.323del | NP_004202.3:p.Pro108LeufsTer27 | |
| XM_017018545.2:c.-57+1773del | XP_016874034.1:n.-57+1773del | |
| NM_001318369.2:c.-241del | NP_001305298.1:n.-241del | |
| NM_004211.5:c.323del MANE Select | NP_004202.4:p.Pro108LeufsTer27 |