Linked Data
ClinVar Variation Id:
450304
ClinVar RCV Id:
RCV000520078
dbSNP Id:
rs1321015847
gnomAD v2:
3-122056428-CTT-C
gnomAD v4:
3-122337581-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122337582_122337583del , CM000665.2:g.122337582_122337583del | GRCh38 |
| NC_000003.11:g.122056429_122056430del , CM000665.1:g.122056429_122056430del | GRCh37 |
| NC_000003.10:g.123539119_123539120del | NCBI36 |
| NG_027995.1:g.17419_17420del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264474.4:c.102_103del MANE Select | ENSP00000264474.3:p.Tyr35ArgfsTer9 | |
| ENST00000264474.3:c.102_103del | ENSP00000264474.3:p.Tyr35ArgfsTer9 | |
| ENST00000479204.1:c.102_103del | ENSP00000418891.1:p.Tyr35ArgfsTer9 | |
| NM_005213.3:c.102_103del | NP_005204.1:p.Tyr35ArgfsTer9 | |
| NM_005213.4:c.102_103del MANE Select | NP_005204.1:p.Tyr35ArgfsTer9 |