Linked Data
ClinVar Variation Id:
367598
ClinVar RCV Id:
RCV000334956
dbSNP Id:
rs56271854
gnomAD v2:
9-97863383-TAC-T
gnomAD v3:
9-95101101-TAC-T
gnomAD v4:
9-95101101-TAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95101103_95101104del , CM000671.2:g.95101103_95101104del | GRCh38 |
| NC_000009.11:g.97863385_97863386del , CM000671.1:g.97863385_97863386del | GRCh37 |
| NC_000009.10:g.96903206_96903207del | NCBI36 |
| NG_011707.1:g.221607_221608del , LRG_497:g.221607_221608del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710812.1:n.410+20323_410+20324del (AOPEP) | ||
| ENST00000696260.1:n.3096_3097del (FANCC) | ||
| ENST00000289081.8:c.*604_*605del (FANCC) MANE Select | ENSP00000289081.3:n.*604_*605del | |
| ENST00000375305.6:c.*604_*605del (FANCC) | ENSP00000364454.1:n.*604_*605del | |
| ENST00000289081.7:c.*604_*605del (FANCC) | ENSP00000289081.3:n.*604_*605del | |
| ENST00000375305.5:c.*604_*605del (FANCC) | ENSP00000364454.1:n.*604_*605del | |
| NM_000136.2:c.*604_*605del , LRG_497t1:c.*604_*605del (FANCC) | NP_000127.2:n.*604_*605del | |
| NM_001243743.1:c.*604_*605del (FANCC) | NP_001230672.1:n.*604_*605del | |
| XM_011519121.1:c.2319+20323_2319+20324del (AOPEP) | XP_011517423.1:n.2319+20323_2319+20324del | |
| XM_005251802.3:c.*604_*605del (FANCC) | XP_005251859.1:n.*604_*605del | |
| XM_006717001.3:c.*604_*605del (FANCC) | XP_006717064.1:n.*604_*605del | |
| XM_011518365.3:c.*604_*605del (FANCC) | XP_011516667.1:n.*604_*605del | |
| XM_011518367.2:c.*604_*605del (FANCC) | XP_011516669.1:n.*604_*605del | |
| XM_011519121.3:c.2319+20323_2319+20324del (AOPEP) | XP_011517423.1:n.2319+20323_2319+20324del | |
| XM_017014452.2:c.*604_*605del (FANCC) | XP_016869941.1:n.*604_*605del | |
| XM_017014453.1:c.*604_*605del (FANCC) | XP_016869942.1:n.*604_*605del | |
| XM_017014454.1:c.*604_*605del (FANCC) | XP_016869943.1:n.*604_*605del | |
| XM_024447451.1:c.*604_*605del (FANCC) | XP_024303219.1:n.*604_*605del | |
| NM_000136.3:c.*604_*605del (FANCC) MANE Select | NP_000127.2:n.*604_*605del | |
| NM_001243743.2:c.*604_*605del (FANCC) | NP_001230672.1:n.*604_*605del |