Linked Data
ClinVar Variation Id:
523933
ClinVar RCV Id:
RCV000627413
dbSNP Id:
rs1554958030
gnomAD v4:
11-2445114-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445118del , CM000673.2:g.2445118del | GRCh38 |
| NC_000011.9:g.2466348del , CM000673.1:g.2466348del | GRCh37 |
| NC_000011.8:g.2422924del | NCBI36 |
| NG_008935.1:g.5128del , LRG_287:g.5128del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.24-265del | ENSP00000434560.2:n.24-265del | |
| ENST00000646564.2:c.20del | ENSP00000495806.2:p.Pro7ArgfsTer? | |
| ENST00000155840.12:c.20del MANE Select | ENSP00000155840.2:p.Pro7ArgfsTer? | |
| ENST00000155840.9:c.20del | ENSP00000155840.2:p.Pro7ArgfsTer? | |
| ENST00000496887.6:c.24-265del | ENSP00000434560.1:n.24-265del | |
| NM_000218.2:c.20del , LRG_287t1:c.20del | NP_000209.2:p.Pro7ArgfsTer? | |
| NM_000218.3:c.20del MANE Select | NP_000209.2:p.Pro7ArgfsTer? |