Linked Data
ClinVar Variation Id:
406680
dbSNP Id:
rs1060501253
gnomAD v4:
11-32428030-CG-C
MyVariant Identifiers:
chr11:g.32449580del (hg19)
chr11:g.32449577del (hg19)
chr11:g.32428031del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32428035del , CM000673.2:g.32428035del | GRCh38 |
| NC_000011.9:g.32449581del , CM000673.1:g.32449581del | GRCh37 |
| NC_000011.8:g.32406157del | NCBI36 |
| NG_009272.1:g.12511del , LRG_525:g.12511del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332351.9:c.812del | ENSP00000331327.5:p.Pro271ArgfsTer20 | |
| ENST00000379077.9:c.812del | ENSP00000368368.5:p.Pro271ArgfsTer20 | |
| ENST00000379079.8:c.161del | ENSP00000368370.2:p.Pro54ArgfsTer20 | |
| ENST00000448076.9:c.812del | ENSP00000413452.5:p.Pro271ArgfsTer20 | |
| ENST00000452863.10:c.812del MANE Select | ENSP00000415516.5:p.Pro271ArgfsTer20 | |
| ENST00000639563.3:c.812del | ENSP00000492269.3:p.Pro271ArgfsTer20 | |
| ENST00000640146.2:c.188del | ENSP00000491984.2:p.Pro63ArgfsTer20 | |
| ENST00000332351.7:c.797del | ENSP00000331327.3:p.Pro266ArgfsTer20 | |
| ENST00000379077.7:c.797del | ENSP00000368368.3:p.Pro266ArgfsTer20 | |
| ENST00000379079.6:c.161del | ENSP00000368370.2:p.Pro54ArgfsTer20 | |
| ENST00000448076.7:c.797del | ENSP00000413452.3:p.Pro266ArgfsTer20 | |
| ENST00000452863.7:c.797del | ENSP00000415516.3:p.Pro266ArgfsTer20 | |
| ENST00000527775.1:c.50del | ENSP00000435351.1:p.Pro17ArgfsTer20 | |
| ENST00000530998.5:c.161del | ENSP00000435307.1:p.Pro54ArgfsTer20 | |
| NM_000378.4:c.797del | NP_000369.3:p.Pro266ArgfsTer20 | |
| NM_001198551.1:c.161del , LRG_525t2:c.161del | NP_001185480.1:p.Pro54ArgfsTer20 | |
| NM_001198552.1:c.161del | NP_001185481.1:p.Pro54ArgfsTer20 | |
| NM_024424.3:c.797del | NP_077742.2:p.Pro266ArgfsTer20 | |
| NM_024426.4:c.797del | NP_077744.3:p.Pro266ArgfsTer20 | |
| NM_000378.5:c.812del | NP_000369.4:p.Pro271ArgfsTer20 | |
| NM_024424.4:c.812del | NP_077742.3:p.Pro271ArgfsTer20 | |
| NM_024426.5:c.812del | NP_077744.4:p.Pro271ArgfsTer20 | |
| NR_160306.1:n.991del | ||
| NM_000378.6:c.812del | NP_000369.4:p.Pro271ArgfsTer20 | |
| NM_001198552.2:c.161del | NP_001185481.1:p.Pro54ArgfsTer20 | |
| NM_024424.5:c.812del | NP_077742.3:p.Pro271ArgfsTer20 | |
| NM_024426.6:c.812del MANE Select | NP_077744.4:p.Pro271ArgfsTer20 |