Linked Data
ClinVar Variation Id:
370941
ClinVar RCV Id:
RCV000412261
dbSNP Id:
rs1057516884
gnomAD v4:
1-209650076-CCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209650078_209650079del , CM000663.2:g.209650078_209650079del | GRCh38 |
| NC_000001.10:g.209823423_209823424del , CM000663.1:g.209823423_209823424del | GRCh37 |
| NC_000001.9:g.207890046_207890047del | NCBI36 |
| NG_007116.1:g.7398_7399del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356082.9:c.69_70del MANE Select | ENSP00000348384.3:p.Ala25LeufsTer28 | |
| ENST00000356082.8:c.69_70del | ENSP00000348384.3:p.Ala25LeufsTer28 | |
| ENST00000367030.7:c.69_70del | ENSP00000355997.3:p.Ala25LeufsTer28 | |
| ENST00000391911.5:c.69_70del | ENSP00000375778.1:p.Ala25LeufsTer28 | |
| ENST00000415782.1:c.69_70del | ENSP00000388960.1:p.Ala25LeufsTer28 | |
| NM_000228.2:c.69_70del | NP_000219.2:p.Ala25LeufsTer28 | |
| NM_001017402.1:c.69_70del | NP_001017402.1:p.Ala25LeufsTer28 | |
| NM_001127641.1:c.69_70del | NP_001121113.1:p.Ala25LeufsTer28 | |
| XM_005273124.3:c.69_70del | XP_005273181.1:p.Ala25LeufsTer28 | |
| XM_005273124.4:c.69_70del | XP_005273181.1:p.Ala25LeufsTer28 | |
| XM_017001272.2:c.69_70del | XP_016856761.1:p.Ala25LeufsTer28 | |
| NM_000228.3:c.69_70del MANE Select | NP_000219.2:p.Ala25LeufsTer28 | |
| NM_001017402.2:c.69_70del | NP_001017402.1:p.Ala25LeufsTer28 |