Linked Data
ClinVar Variation Id:
254626
dbSNP Id:
rs276174910
MyVariant Identifiers:
chr13:g.32950822del (hg19)
chr13:g.32950821del (hg19)
chr13:g.32376685del (hg38)
chr13:g.32376684del (hg38)
PubMed:
PMID:18097605
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32376685del , CM000675.2:g.32376685del | GRCh38 |
| NC_000013.10:g.32950822del , CM000675.1:g.32950822del | GRCh37 |
| NC_000013.9:g.31848822del | NCBI36 |
| NG_012772.3:g.66206del , LRG_293:g.66206del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8648del | ENSP00000434898.2:p.Pro2883HisfsTer8 | |
| ENST00000528762.2:c.*15del | ENSP00000433168.2:n.*15del | |
| ENST00000530893.7:c.8279del | ENSP00000499438.2:p.Pro2760HisfsTer8 | |
| ENST00000665585.2:c.*210del | ENSP00000499570.2:n.*210del | |
| ENST00000666593.2:c.8648del | ENSP00000499256.2:p.Pro2883HisfsTer8 | |
| ENST00000700202.2:c.8648del | ENSP00000514856.2:p.Pro2883HisfsTer8 | |
| ENST00000700202.1:c.1115del | ENSP00000514856.1:p.Pro372HisfsTer8 | |
| ENST00000700203.1:n.775del | ||
| ENST00000380152.8:c.8648del MANE Select | ENSP00000369497.3:p.Pro2883HisfsTer8 | |
| ENST00000544455.6:c.8648del | ENSP00000439902.1:p.Pro2883HisfsTer8 | |
| ENST00000614259.2:c.8656del | ENSP00000506251.1:n.8656del | |
| ENST00000665585.1:c.1526del | ||
| ENST00000680887.1:c.8648del | ENSP00000505508.1:p.Pro2883HisfsTer8 | |
| ENST00000380152.7:c.8648del | ENSP00000369497.3:p.Pro2883HisfsTer8 | |
| ENST00000528762.1:c.210del | ENSP00000433168.1:n.210del | |
| ENST00000544455.5:c.8648del | ENSP00000439902.1:p.Pro2883HisfsTer8 | |
| NM_000059.3:c.8648del , LRG_293t1:c.8648del | NP_000050.2:p.Pro2883HisfsTer8 | |
| XM_011535203.1:c.8648del | XP_011533505.1:p.Pro2883HisfsTer8 | |
| XM_011535204.1:c.8552del | XP_011533506.1:p.Pro2851HisfsTer8 | |
| XM_011535205.1:c.8648del | XP_011533507.1:p.Pro2883HisfsTer8 | |
| NM_000059.4:c.8648del MANE Select | NP_000050.3:p.Pro2883HisfsTer8 |