Linked Data
ClinVar Variation Id:
2631642
ClinVar RCV Id:
RCV003397417
gnomAD v4:
17-72123889-AC-A
COSMIC:
COSM2976238
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123894del , CM000679.2:g.72123894del | GRCh38 |
| NC_000017.10:g.70120035del , CM000679.1:g.70120035del | GRCh37 |
| NC_000017.9:g.67631630del | NCBI36 |
| NG_012490.1:g.7875del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.1037del MANE Select | ENSP00000245479.2:p.Pro346ArgfsTer? | |
| ENST00000245479.2:c.1037del | ENSP00000245479.2:p.Pro346ArgfsTer? | |
| NM_000346.3:c.1037del | NP_000337.1:p.Pro346ArgfsTer? | |
| NM_000346.4:c.1037del MANE Select | NP_000337.1:p.Pro346ArgfsTer? |