Linked Data
ClinVar Variation Id:
452311
ClinVar RCV Id:
RCV000518922
dbSNP Id:
rs1367402633
gnomAD v3:
1-236795703-CAT-C
gnomAD v4:
1-236795703-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236795704_236795705del , CM000663.2:g.236795704_236795705del | GRCh38 |
| NC_000001.10:g.236959004_236959005del , CM000663.1:g.236959004_236959005del | GRCh37 |
| NC_000001.9:g.235025627_235025628del | NCBI36 |
| NG_008959.1:g.5424_5425del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366577.10:c.1_2del MANE Select | ENSP00000355536.5:p.Met1ValfsTer20 | |
| ENST00000535889.6:c.1_2del | ENSP00000441845.1:p.Met1ValfsTer20 | |
| ENST00000650888.1:c.1_2del | ENSP00000498393.1:p.Met1ValfsTer20 | |
| ENST00000651455.1:c.1_2del | ENSP00000498963.1:p.Met1ValfsTer20 | |
| ENST00000652435.1:c.-133_-132del | ENSP00000505932.1:n.-133_-132del | |
| ENST00000674797.2:c.-133_-132del | ENSP00000502299.2:n.-133_-132del | |
| ENST00000679569.1:n.318_319del | ||
| ENST00000679842.1:c.1_2del | ENSP00000506109.1:p.Met1ValfsTer20 | |
| ENST00000680454.1:n.445_446del | ||
| ENST00000681102.1:c.1_2del | ENSP00000505600.1:p.Met1ValfsTer20 | |
| ENST00000681177.1:c.1_2del | ENSP00000506327.1:p.Met1ValfsTer20 | |
| ENST00000366577.9:c.1_2del | ENSP00000355536.5:p.Met1ValfsTer20 | |
| ENST00000463959.1:n.90_91del | ||
| ENST00000535889.5:c.1_2del | ENSP00000441845.1:p.Met1ValfsTer20 | |
| NM_000254.2:c.1_2del | NP_000245.2:p.Met1ValfsTer20 | |
| NM_001291939.1:c.1_2del | NP_001278868.1:p.Met1ValfsTer20 | |
| NM_001291940.1:c.-1108_-1107del | NP_001278869.1:n.-1108_-1107del | |
| XM_005273141.3:c.1_2del | XP_005273198.1:p.Met1ValfsTer19 | |
| XM_006711769.2:c.1_2del | XP_006711832.1:p.Met1ValfsTer20 | |
| XM_011544193.1:c.1_2del | XP_011542495.1:p.Met1ValfsTer20 | |
| XM_011544194.1:c.384_385del | XP_011542496.1:p.Cys129SerfsTer21 | |
| XM_005273141.5:c.1_2del | XP_005273198.1:p.Met1ValfsTer19 | |
| XM_011544194.3:c.384_385del | XP_011542496.1:p.Cys129SerfsTer21 | |
| XM_017001329.2:c.384_385del | XP_016856818.1:p.Cys129SerfsTer21 | |
| XM_017001330.2:c.384_385del | XP_016856819.1:p.Cys129SerfsTer21 | |
| NM_001291940.2:c.-1108_-1107del | NP_001278869.1:n.-1108_-1107del | |
| NM_000254.3:c.1_2del MANE Select | NP_000245.2:p.Met1ValfsTer20 |