Linked Data
ClinVar Variation Id:
1440317
ClinVar RCV Id:
RCV001950380
dbSNP Id:
rs2129315787
gnomAD v4:
7-107689061-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107689062del , CM000669.2:g.107689062del | GRCh38 |
| NC_000007.13:g.107329507del , CM000669.1:g.107329507del | GRCh37 |
| NC_000007.12:g.107116743del | NCBI36 |
| NG_008489.1:g.33428del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1011del MANE Select | ENSP00000494017.1:p.Pro338LeufsTer6 | |
| ENST00000265715.7:c.1011del | ENSP00000265715.3:p.Pro338LeufsTer6 | |
| NM_000441.1:c.1011del | NP_000432.1:p.Pro338LeufsTer6 | |
| XM_005250425.1:c.1011del | XP_005250482.1:p.Pro338LeufsTer6 | |
| XM_006716025.2:c.1011del | XP_006716088.1:p.Pro338LeufsTer6 | |
| XM_005250425.2:c.1011del | XP_005250482.1:p.Pro338LeufsTer6 | |
| XM_006716025.3:c.1011del | XP_006716088.1:p.Pro338LeufsTer6 | |
| XM_017012318.1:c.1011del | XP_016867807.1:p.Pro338LeufsTer6 | |
| NM_000441.2:c.1011del MANE Select | NP_000432.1:p.Pro338LeufsTer6 |