Linked Data
ClinVar Variation Id:
14954
ClinVar RCV Id:
RCV000016094
dbSNP Id:
rs587777760
PubMed:
PMID:8902986
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20786995_20786996del , CM000684.2:g.20786995_20786996del | GRCh38 |
| NC_000022.10:g.21141283_21141284del , CM000684.1:g.21141283_21141284del | GRCh37 |
| NC_000022.9:g.19471283_19471284del | NCBI36 |
| NG_012076.1:g.17901_17902del | |
| NG_033052.1:g.76819_76820del | |
| NG_012076.2:g.17901_17902del | |
| NG_033052.2:g.76819_76820del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000215727.10:c.1429_1430del (SERPIND1) MANE Select | ENSP00000215727.5:p.Phe477ProfsTer28 | |
| ENST00000255882.11:c.2328+6199_2328+6200del (PI4KA) MANE Select | ENSP00000255882.6:n.2328+6199_2328+6200de... | |
| ENST00000215727.9:c.1429_1430del (SERPIND1) | ENSP00000215727.5:p.Phe477ProfsTer28 | |
| ENST00000255882.10:c.2328+6199_2328+6200del (PI4KA) | ENSP00000255882.6:n.2328+6199_2328+6200de... | |
| ENST00000406799.1:c.1429_1430del (SERPIND1) | ENSP00000384050.1:p.Phe477ProfsTer28 | |
| ENST00000466162.5:n.91+6199_91+6200del (PI4KA) | ||
| ENST00000484220.1:n.64+6199_64+6200del (PI4KA) | ||
| NM_000185.3:c.1429_1430del (SERPIND1) | NP_000176.2:p.Phe477ProfsTer28 | |
| NM_058004.3:c.2328+6199_2328+6200del (PI4KA) | NP_477352.3:n.2328+6199_2328+6200del | |
| XM_005261634.1:c.2412+6199_2412+6200del (PI4KA) | XP_005261691.1:n.2412+6199_2412+6200del | |
| XM_005261635.1:c.2412+6199_2412+6200del (PI4KA) | XP_005261692.1:n.2412+6199_2412+6200del | |
| XM_011530226.1:c.2412+6199_2412+6200del (PI4KA) | XP_011528528.1:n.2412+6199_2412+6200del | |
| XM_011530227.1:c.2412+6199_2412+6200del (PI4KA) | XP_011528529.1:n.2412+6199_2412+6200del | |
| XM_011530228.1:c.2412+6199_2412+6200del (PI4KA) | XP_011528530.1:n.2412+6199_2412+6200del | |
| XR_937868.1:n.2415+6199_2415+6200del (PI4KA) | ||
| NM_001362862.1:c.2328+6199_2328+6200del (PI4KA) | NP_001349791.1:n.2328+6199_2328+6200del | |
| NM_001362863.1:c.2262+6199_2262+6200del (PI4KA) | NP_001349792.1:n.2262+6199_2262+6200del | |
| XM_011530228.2:c.2412+6199_2412+6200del (PI4KA) | XP_011528530.1:n.2412+6199_2412+6200del | |
| XM_017028830.1:c.429+6199_429+6200del (PI4KA) | XP_016884319.1:n.429+6199_429+6200del | |
| XR_001755251.1:n.2415+6199_2415+6200del (PI4KA) | ||
| NM_000185.4:c.1429_1430del (SERPIND1) MANE Select | NP_000176.2:p.Phe477ProfsTer28 | |
| NM_058004.4:c.2328+6199_2328+6200del (PI4KA) MANE Select | NP_477352.3:n.2328+6199_2328+6200del | |
| NM_001362862.2:c.2328+6199_2328+6200del (PI4KA) | NP_001349791.1:n.2328+6199_2328+6200del | |
| NM_001362863.2:c.2262+6199_2262+6200del (PI4KA) | NP_001349792.1:n.2262+6199_2262+6200del |