Linked Data
ClinVar Variation Id:
294163
dbSNP Id:
rs375820274
ExAC:
1:186007176 AC / A
gnomAD v2:
1-186007176-AC-A
gnomAD v3:
1-186038044-AC-A
gnomAD v4:
1-186038044-AC-A
COSMIC:
COSM1666572
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186038045del , CM000663.2:g.186038045del | GRCh38 |
| NC_000001.10:g.186007177del , CM000663.1:g.186007177del | GRCh37 |
| NC_000001.9:g.184273800del | NCBI36 |
| NG_011841.1:g.308495del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.5851+10del MANE Select | ENSP00000271588.4:n.5851+10del | |
| ENST00000271588.8:c.5851+10del | ENSP00000271588.4:n.5851+10del | |
| NM_031935.2:c.5851+10del | NP_114141.2:n.5851+10del | |
| XM_011510037.1:c.5851+10del | XP_011508339.1:n.5851+10del | |
| XM_011510038.1:c.5851+10del | XP_011508340.1:n.5851+10del | |
| XM_011510039.1:c.5851+10del | XP_011508341.1:n.5851+10del | |
| XM_011510040.1:c.5851+10del | XP_011508342.1:n.5851+10del | |
| XM_011510041.1:c.5851+10del | XP_011508343.1:n.5851+10del | |
| XM_011510038.3:c.5851+10del | XP_011508340.1:n.5851+10del | |
| XM_011510041.3:c.5851+10del | XP_011508343.1:n.5851+10del | |
| XM_017002437.1:c.3874+10del | XP_016857926.1:n.3874+10del | |
| XM_024450118.1:c.5851+10del | XP_024305886.1:n.5851+10del | |
| NM_031935.3:c.5851+10del MANE Select | NP_114141.2:n.5851+10del |