Linked Data
dbSNP Id:
rs762670235
ExAC:
9:97873959 ATTC / A
gnomAD v2:
9-97873959-ATTC-A
gnomAD v3:
9-95111677-ATTC-A
gnomAD v4:
9-95111677-ATTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95111684_95111686del , CM000671.2:g.95111684_95111686del | GRCh38 |
| NC_000009.11:g.97873966_97873968del , CM000671.1:g.97873966_97873968del | GRCh37 |
| NC_000009.10:g.96913787_96913789del | NCBI36 |
| NG_011707.1:g.211030_211032del , LRG_497:g.211030_211032del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710812.1:n.410+30904_410+30906del (AOPEP) | ||
| ENST00000696260.1:n.1927_1929del (FANCC) | ||
| ENST00000289081.8:c.1155-43_1155-41del (FANCC) MANE Select | ENSP00000289081.3:n.1155-43_1155-41del | |
| ENST00000375305.6:c.1155-43_1155-41del (FANCC) | ENSP00000364454.1:n.1155-43_1155-41del | |
| ENST00000490972.7:c.1155-43_1155-41del (FANCC) | ENSP00000479931.1:n.1155-43_1155-41del | |
| ENST00000649334.1:c.1300-43_1300-41del (FANCC) | ENSP00000497735.1:n.1300-43_1300-41del | |
| ENST00000289081.7:c.1155-43_1155-41del (FANCC) | ENSP00000289081.3:n.1155-43_1155-41del | |
| ENST00000375305.5:c.1155-43_1155-41del (FANCC) | ENSP00000364454.1:n.1155-43_1155-41del | |
| ENST00000464627.5:n.482-43_482-41del (FANCC) | ||
| ENST00000477942.5:n.510-43_510-41del (FANCC) | ||
| ENST00000480712.5:n.340-43_340-41del (FANCC) | ||
| ENST00000490972.6:c.1155-43_1155-41del (FANCC) | ENSP00000479931.1:n.1155-43_1155-41del | |
| NM_000136.2:c.1155-43_1155-41del , LRG_497t1:c.1155-43_1155-41del (FANCC) | NP_000127.2:n.1155-43_1155-41del | |
| NM_001243743.1:c.1155-43_1155-41del (FANCC) | NP_001230672.1:n.1155-43_1155-41del | |
| NM_001243744.1:c.1155-43_1155-41del (FANCC) | NP_001230673.1:n.1155-43_1155-41del | |
| XM_005251802.2:c.474-43_474-41del (FANCC) | XP_005251859.1:n.474-43_474-41del | |
| XM_006717001.1:c.990-43_990-41del (FANCC) | XP_006717064.1:n.990-43_990-41del | |
| XM_006717002.2:c.1155-43_1155-41del (FANCC) | XP_006717065.1:n.1155-43_1155-41del | |
| XM_006717004.2:c.*50-43_*50-41del (FANCC) | XP_006717067.1:n.*50-43_*50-41del | |
| XM_011518365.1:c.1155-43_1155-41del (FANCC) | XP_011516667.1:n.1155-43_1155-41del | |
| XM_011518366.1:c.1155-43_1155-41del (FANCC) | XP_011516668.1:n.1155-43_1155-41del | |
| XM_011518367.1:c.699-43_699-41del (FANCC) | XP_011516669.1:n.699-43_699-41del | |
| XM_011519121.1:c.2319+30904_2319+30906del (AOPEP) | XP_011517423.1:n.2319+30904_2319+30906del | |
| XM_005251802.3:c.474-43_474-41del (FANCC) | XP_005251859.1:n.474-43_474-41del | |
| XM_006717001.3:c.990-43_990-41del (FANCC) | XP_006717064.1:n.990-43_990-41del | |
| XM_006717002.4:c.1155-43_1155-41del (FANCC) | XP_006717065.1:n.1155-43_1155-41del | |
| XM_006717004.4:c.*50-43_*50-41del (FANCC) | XP_006717067.1:n.*50-43_*50-41del | |
| XM_011518365.3:c.1155-43_1155-41del (FANCC) | XP_011516667.1:n.1155-43_1155-41del | |
| XM_011518366.3:c.1155-43_1155-41del (FANCC) | XP_011516668.1:n.1155-43_1155-41del | |
| XM_011518367.2:c.699-43_699-41del (FANCC) | XP_011516669.1:n.699-43_699-41del | |
| XM_011519121.3:c.2319+30904_2319+30906del (AOPEP) | XP_011517423.1:n.2319+30904_2319+30906del | |
| XM_017014452.2:c.699-43_699-41del (FANCC) | XP_016869941.1:n.699-43_699-41del | |
| XM_017014453.1:c.699-43_699-41del (FANCC) | XP_016869942.1:n.699-43_699-41del | |
| XM_017014454.1:c.534-43_534-41del (FANCC) | XP_016869943.1:n.534-43_534-41del | |
| XM_024447451.1:c.1155-43_1155-41del (FANCC) | XP_024303219.1:n.1155-43_1155-41del | |
| NM_000136.3:c.1155-43_1155-41del (FANCC) MANE Select | NP_000127.2:n.1155-43_1155-41del | |
| NM_001243743.2:c.1155-43_1155-41del (FANCC) | NP_001230672.1:n.1155-43_1155-41del | |
| NM_001243744.2:c.1155-43_1155-41del (FANCC) | NP_001230673.1:n.1155-43_1155-41del |