Linked Data
ClinVar Variation Id:
422023
dbSNP Id:
rs773270231
ExAC:
9:97869434 CAGG / C
gnomAD v2:
9-97869434-CAGG-C
gnomAD v3:
9-95107152-CAGG-C
gnomAD v4:
9-95107152-CAGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95107155_95107157del , CM000671.2:g.95107155_95107157del | GRCh38 |
| NC_000009.11:g.97869437_97869439del , CM000671.1:g.97869437_97869439del | GRCh37 |
| NC_000009.10:g.96909258_96909260del | NCBI36 |
| NG_011707.1:g.215555_215557del , LRG_497:g.215555_215557del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710812.1:n.410+26375_410+26377del (AOPEP) | ||
| ENST00000696260.1:n.2259_2261del (FANCC) | ||
| ENST00000289081.8:c.1444_1446del (FANCC) MANE Select | ENSP00000289081.3:p.Pro482del | |
| ENST00000375305.6:c.1444_1446del (FANCC) | ENSP00000364454.1:p.Pro482del | |
| ENST00000649334.1:c.1589_1591del (FANCC) | ENSP00000497735.1:n.1589_1591del | |
| ENST00000289081.7:c.1444_1446del (FANCC) | ENSP00000289081.3:p.Pro482del | |
| ENST00000375305.5:c.1444_1446del (FANCC) | ENSP00000364454.1:p.Pro482del | |
| ENST00000464627.5:n.771_773del (FANCC) | ||
| NM_000136.2:c.1444_1446del , LRG_497t1:c.1444_1446del (FANCC) | NP_000127.2:p.Pro482del | |
| NM_001243743.1:c.1444_1446del (FANCC) | NP_001230672.1:p.Pro482del | |
| XM_005251802.2:c.763_765del (FANCC) | XP_005251859.1:p.Pro255del | |
| XM_006717001.1:c.1279_1281del (FANCC) | XP_006717064.1:p.Pro427del | |
| XM_011518365.1:c.1444_1446del (FANCC) | XP_011516667.1:p.Pro482del | |
| XM_011518367.1:c.988_990del (FANCC) | XP_011516669.1:p.Pro330del | |
| XM_011519121.1:c.2319+26375_2319+26377del (AOPEP) | XP_011517423.1:n.2319+26375_2319+26377del | |
| XM_005251802.3:c.763_765del (FANCC) | XP_005251859.1:p.Pro255del | |
| XM_006717001.3:c.1279_1281del (FANCC) | XP_006717064.1:p.Pro427del | |
| XM_011518365.3:c.1444_1446del (FANCC) | XP_011516667.1:p.Pro482del | |
| XM_011518367.2:c.988_990del (FANCC) | XP_011516669.1:p.Pro330del | |
| XM_011519121.3:c.2319+26375_2319+26377del (AOPEP) | XP_011517423.1:n.2319+26375_2319+26377del | |
| XM_017014452.2:c.988_990del (FANCC) | XP_016869941.1:p.Pro330del | |
| XM_017014453.1:c.988_990del (FANCC) | XP_016869942.1:p.Pro330del | |
| XM_017014454.1:c.823_825del (FANCC) | XP_016869943.1:p.Pro275del | |
| XM_024447451.1:c.1444_1446del (FANCC) | XP_024303219.1:p.Pro482del | |
| XR_001746847.1:n.573_575del | ||
| NM_000136.3:c.1444_1446del (FANCC) MANE Select | NP_000127.2:p.Pro482del | |
| NM_001243743.2:c.1444_1446del (FANCC) | NP_001230672.1:p.Pro482del |