Linked Data
ClinVar Variation Id:
209000
ClinVar RCV Id:
RCV000190930
dbSNP Id:
rs797045149
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.100191459_100191463del , CM000670.2:g.100191459_100191463del | GRCh38 |
| NC_000008.10:g.101203687_101203691del , CM000670.1:g.101203687_101203691del | GRCh37 |
| NC_000008.9:g.101272863_101272867del | NCBI36 |
| NG_033834.1:g.38425_38429del | |
| NG_033834.2:g.38425_38429del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388798.7:c.902_906del MANE Select | ENSP00000373450.3:p.Lys301ThrfsTer4 | |
| ENST00000251809.4:c.902_906del | ENSP00000251809.3:p.Lys301ThrfsTer4 | |
| ENST00000388798.6:c.902_906del | ENSP00000373450.2:p.Lys301ThrfsTer4 | |
| ENST00000520508.5:c.902_906del | ENSP00000428070.1:p.Lys301ThrfsTer4 | |
| ENST00000520643.5:c.902_906del | ENSP00000427716.1:p.Lys301ThrfsTer4 | |
| NM_003114.4:c.902_906del | NP_003105.2:p.Lys301ThrfsTer4 | |
| NM_172218.2:c.902_906del | NP_757367.1:p.Lys301ThrfsTer4 | |
| XM_011517240.1:c.902_906del | XP_011515542.1:p.Lys301ThrfsTer4 | |
| XM_011517241.1:c.902_906del | XP_011515543.1:p.Lys301ThrfsTer4 | |
| XM_011517242.1:c.902_906del | XP_011515544.1:p.Lys301ThrfsTer4 | |
| XM_011517243.1:c.902_906del | XP_011515545.1:p.Lys301ThrfsTer4 | |
| XM_011517244.1:c.902_906del | XP_011515546.1:p.Lys301ThrfsTer4 | |
| XM_011517245.1:c.902_906del | XP_011515547.1:p.Lys301ThrfsTer4 | |
| XM_011517240.2:c.902_906del | XP_011515542.1:p.Lys301ThrfsTer4 | |
| XM_011517241.2:c.902_906del | XP_011515543.1:p.Lys301ThrfsTer4 | |
| XM_011517242.2:c.902_906del | XP_011515544.1:p.Lys301ThrfsTer4 | |
| XM_011517243.2:c.902_906del | XP_011515545.1:p.Lys301ThrfsTer4 | |
| XM_011517245.2:c.902_906del | XP_011515547.1:p.Lys301ThrfsTer4 | |
| XM_017013754.1:c.1007_1011del | XP_016869243.1:p.Lys336ThrfsTer4 | |
| XM_017013755.1:c.566_570del | XP_016869244.1:p.Lys189ThrfsTer4 | |
| XR_001745580.1:n.988_992del | ||
| XR_001745581.1:n.988_992del | ||
| XR_001745582.1:n.988_992del | ||
| XR_001745583.1:n.988_992del | ||
| NM_001374321.1:c.902_906del | NP_001361250.1:p.Lys301ThrfsTer4 | |
| NM_003114.5:c.902_906del MANE Select | NP_003105.2:p.Lys301ThrfsTer4 | |
| NM_172218.3:c.902_906del | NP_757367.1:p.Lys301ThrfsTer4 |