Linked Data
ClinVar Variation Id:
662117
ClinVar RCV Id:
RCV000819689
dbSNP Id:
rs1594784265
gnomAD v4:
14-34712889-AACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.34712895_34712897del , CM000676.2:g.34712895_34712897del | GRCh38 |
| NC_000014.8:g.35182101_35182103del , CM000676.1:g.35182101_35182103del | GRCh37 |
| NC_000014.7:g.34251852_34251854del | NCBI36 |
| NG_012740.1:g.6932_6934del , LRG_213:g.6932_6934del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298159.11:c.474_476del MANE Select | ENSP00000298159.6:p.Val159del | |
| ENST00000341223.8:c.474_476del | ENSP00000340635.3:p.Val159del | |
| ENST00000672163.1:c.474_476del | ENSP00000500375.1:p.Val159del | |
| ENST00000672517.1:c.474_476del | ENSP00000500532.1:p.Val159del | |
| ENST00000673315.1:c.423_425del | ENSP00000500002.1:p.Val142del | |
| ENST00000298159.10:c.474_476del | ENSP00000298159.6:p.Val159del | |
| ENST00000341223.7:c.474_476del | ENSP00000340635.3:p.Val159del | |
| ENST00000422678.2:c.*154_*156del | ENSP00000409326.2:n.*154_*156del | |
| ENST00000554470.5:c.*154_*156del | ENSP00000450862.1:n.*154_*156del | |
| ENST00000555765.5:c.423_425del | ENSP00000452451.1:p.Val142del | |
| ENST00000556161.1:c.423_425del | ENSP00000452188.1:p.Val142del | |
| NM_001243645.1:c.423_425del | NP_001230574.1:p.Val142del | |
| NM_021914.7:c.474_476del | NP_068733.1:p.Val159del | |
| NM_138638.4:c.474_476del , LRG_213t1:c.474_476del | NP_619579.1:p.Val159del | |
| NR_028130.1:n.614_616del | ||
| NR_028131.1:n.503_505del | ||
| XM_011536363.1:c.423_425del | XP_011534665.1:p.Val142del | |
| XM_011536363.3:c.423_425del | XP_011534665.1:p.Val142del | |
| NM_138638.5:c.474_476del MANE Select | NP_619579.1:p.Val159del | |
| NM_001243645.2:c.423_425del | NP_001230574.1:p.Val142del | |
| NM_021914.8:c.474_476del | NP_068733.1:p.Val159del | |
| NR_028130.2:n.384_386del | ||
| NR_028131.2:n.273_275del |