Linked Data
ClinVar Variation Id:
189236
dbSNP Id:
rs747013505
ExAC:
19:41105996 CT / C
gnomAD v2:
19-41105996-CT-C
gnomAD v3:
19-40600090-CT-C
gnomAD v4:
19-40600090-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40600091del , CM000681.2:g.40600091del | GRCh38 |
| NC_000019.9:g.41105997del , CM000681.1:g.41105997del | GRCh37 |
| NC_000019.8:g.45797837del | NCBI36 |
| NG_021201.1:g.11926del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204005.13:c.254del | ENSP00000204005.10:p.Leu85ArgfsTer15 | |
| ENST00000308370.11:c.365del | ENSP00000311905.8:p.Leu122ArgfsTer15 | |
| ENST00000593738.1:n.108del | ||
| ENST00000594537.2:c.*100del | ENSP00000480629.1:n.*100del | |
| ENST00000598717.5:n.416del | ||
| ENST00000599016.5:c.*100del | ENSP00000482179.1:n.*100del | |
| ENST00000600026.5:c.*100del | ENSP00000483230.1:n.*100del | |
| NM_001042544.1:c.365del | NP_001036009.1:p.Leu122ArgfsTer15 | |
| NM_003573.2:c.254del | NP_003564.2:p.Leu85ArgfsTer15 | |
| XM_011527376.1:c.365del | XP_011525678.1:p.Leu122ArgfsTer15 | |
| XM_011527377.1:c.398del | XP_011525679.1:p.Leu133ArgfsTer15 | |
| XM_011527378.1:c.398del | XP_011525680.1:p.Leu133ArgfsTer15 | |
| XM_011527380.1:c.398del | XP_011525682.1:p.Leu133ArgfsTer15 | |
| XM_011527381.1:c.398del | XP_011525683.1:p.Leu133ArgfsTer15 | |
| XM_011527382.1:c.398del | XP_011525684.1:p.Leu133ArgfsTer15 | |
| XM_011527383.1:c.398del | XP_011525685.1:p.Leu133ArgfsTer15 | |
| XM_011527384.1:c.398del | XP_011525686.1:p.Leu133ArgfsTer15 | |
| XM_011527385.1:c.398del | XP_011525687.1:p.Leu133ArgfsTer15 | |
| XM_011527386.1:c.398del | XP_011525688.1:p.Leu133ArgfsTer15 | |
| XM_011527387.1:c.-245del | XP_011525689.1:n.-245del | |
| XM_011527376.2:c.365del | XP_011525678.1:p.Leu122ArgfsTer15 | |
| XM_011527377.2:c.398del | XP_011525679.1:p.Leu133ArgfsTer15 | |
| XM_011527378.2:c.398del | XP_011525680.1:p.Leu133ArgfsTer15 | |
| XM_011527380.2:c.398del | XP_011525682.1:p.Leu133ArgfsTer15 | |
| XM_011527381.2:c.398del | XP_011525683.1:p.Leu133ArgfsTer15 | |
| XM_011527382.2:c.398del | XP_011525684.1:p.Leu133ArgfsTer15 | |
| XM_011527383.2:c.398del | XP_011525685.1:p.Leu133ArgfsTer15 | |
| XM_011527384.2:c.398del | XP_011525686.1:p.Leu133ArgfsTer15 | |
| XM_011527385.2:c.398del | XP_011525687.1:p.Leu133ArgfsTer15 | |
| XM_011527386.2:c.398del | XP_011525688.1:p.Leu133ArgfsTer15 | |
| XM_017027352.1:c.398del | XP_016882841.1:p.Leu133ArgfsTer15 | |
| XM_017027353.1:c.398del | XP_016882842.1:p.Leu133ArgfsTer15 | |
| XM_017027354.1:c.398del | XP_016882843.1:p.Leu133ArgfsTer15 |