Linked Data
ClinVar Variation Id:
936503
ClinVar RCV Id:
RCV001205312
dbSNP Id:
rs767377193
ExAC:
8:65537068 CT / C
gnomAD v2:
8-65537068-CT-C
gnomAD v4:
8-64624511-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64624515del , CM000670.2:g.64624515del | GRCh38 |
| NC_000008.10:g.65537072del , CM000670.1:g.65537072del | GRCh37 |
| NC_000008.9:g.65699626del | NCBI36 |
| NG_008338.1:g.179280del | |
| NG_008338.2:g.179280del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.150del MANE Select | ENSP00000310721.3:p.Gly51ValfsTer10 | |
| ENST00000310193.3:c.150del | ENSP00000310721.3:p.Gly51ValfsTer10 | |
| NM_004820.3:c.150del | NP_004811.1:p.Gly51ValfsTer10 | |
| NM_001324112.1:c.150del | NP_001311041.1:p.Gly51ValfsTer10 | |
| NM_004820.4:c.150del | NP_004811.1:p.Gly51ValfsTer10 | |
| XM_017014002.1:c.216del | XP_016869491.1:p.Gly73ValfsTer10 | |
| NM_004820.5:c.150del MANE Select | NP_004811.1:p.Gly51ValfsTer10 | |
| NM_001324112.2:c.150del | NP_001311041.1:p.Gly51ValfsTer10 |