Linked Data
ClinVar Variation Id:
418594
ClinVar RCV Id:
RCV000480144
dbSNP Id:
rs1064793317
gnomAD v4:
20-63406707-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406712del , CM000682.2:g.63406712del | GRCh38 |
| NC_000020.10:g.62038065del , CM000682.1:g.62038065del | GRCh37 |
| NC_000020.9:g.61508509del | NCBI36 |
| NG_009004.1:g.70933del | |
| NG_009004.2:g.70933del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706989.1:c.2609del | ENSP00000516702.1:p.Pro870ArgfsTer? | |
| ENST00000359125.7:c.2555del MANE Select | ENSP00000352035.2:p.Pro852ArgfsTer? | |
| ENST00000637193.1:c.1952del | ENSP00000490734.1:p.Pro651ArgfsTer? | |
| ENST00000344462.8:c.2462del | ENSP00000339611.4:p.Pro821ArgfsTer? | |
| ENST00000357249.6:c.2123del | ENSP00000349789.3:p.Pro708ArgfsTer? | |
| ENST00000359125.6:c.2555del | ENSP00000352035.2:p.Pro852ArgfsTer? | |
| ENST00000360480.7:c.2471del | ENSP00000353668.3:p.Pro824ArgfsTer? | |
| ENST00000370224.5:c.2241+338del | ENSP00000359244.2:n.2241+338del | |
| ENST00000625514.2:c.2205+338del | ENSP00000486040.1:n.2205+338del | |
| ENST00000626839.2:c.2501del | ENSP00000486706.1:p.Pro834ArgfsTer? | |
| ENST00000629241.2:c.2133+338del | ENSP00000487142.1:n.2133+338del | |
| ENST00000629676.2:c.1680-5865del | ENSP00000486194.1:n.1680-5865del | |
| NM_004518.4:c.2471del | NP_004509.2:p.Pro824ArgfsTer? | |
| NM_172106.1:c.2501del | NP_742104.1:p.Pro834ArgfsTer? | |
| NM_172107.2:c.2555del | NP_742105.1:p.Pro852ArgfsTer? | |
| NM_172108.3:c.2462del | NP_742106.1:p.Pro821ArgfsTer? | |
| XM_006723787.1:c.2597del | XP_006723850.1:p.Pro866ArgfsTer? | |
| XM_011528807.1:c.2663del | XP_011527109.1:p.Pro888ArgfsTer? | |
| XM_011528808.1:c.2660del | XP_011527110.1:p.Pro887ArgfsTer? | |
| XM_011528809.1:c.2633del | XP_011527111.1:p.Pro878ArgfsTer? | |
| XM_011528810.1:c.2609del | XP_011527112.1:p.Pro870ArgfsTer? | |
| XM_011528811.1:c.2579del | XP_011527113.1:p.Pro860ArgfsTer? | |
| XM_011528812.1:c.2552del | XP_011527114.1:p.Pro851ArgfsTer? | |
| XM_011528813.1:c.2537del | XP_011527115.1:p.Pro846ArgfsTer? | |
| XM_011528814.1:c.2144del | XP_011527116.1:p.Pro715ArgfsTer? | |
| NM_004518.5:c.2471del | NP_004509.2:p.Pro824ArgfsTer? | |
| NM_172106.2:c.2501del | NP_742104.1:p.Pro834ArgfsTer? | |
| NM_172107.3:c.2555del | NP_742105.1:p.Pro852ArgfsTer? | |
| NM_172108.4:c.2462del | NP_742106.1:p.Pro821ArgfsTer? | |
| XM_011528810.2:c.2609del | XP_011527112.1:p.Pro870ArgfsTer? | |
| XM_011528811.2:c.2579del | XP_011527113.1:p.Pro860ArgfsTer? | |
| XM_017027841.2:c.2606del | XP_016883330.1:p.Pro869ArgfsTer? | |
| XM_017027842.2:c.2543del | XP_016883331.1:p.Pro848ArgfsTer? | |
| XM_017027843.1:c.2540del | XP_016883332.1:p.Pro847ArgfsTer? | |
| XM_017027844.2:c.2498del | XP_016883333.1:p.Pro833ArgfsTer? | |
| XM_017027845.1:c.1571del | XP_016883334.1:p.Pro524ArgfsTer? | |
| NM_004518.6:c.2471del | NP_004509.2:p.Pro824ArgfsTer? | |
| NM_172106.3:c.2501del | NP_742104.1:p.Pro834ArgfsTer? | |
| NM_172107.4:c.2555del MANE Select | NP_742105.1:p.Pro852ArgfsTer? | |
| NM_172108.5:c.2462del | NP_742106.1:p.Pro821ArgfsTer? | |
| NM_001382235.1:c.2609del | NP_001369164.1:p.Pro870ArgfsTer? |