Linked Data
dbSNP Id:
rs1314427475
gnomAD v3:
10-122432939-TAGAGA-T
gnomAD v4:
10-122432939-TAGAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122432941_122432945del , CM000672.2:g.122432941_122432945del | GRCh38 |
| NC_000010.10:g.124192457_124192461del , CM000672.1:g.124192457_124192461del | GRCh37 |
| NC_000010.9:g.124182447_124182451del | NCBI36 |
| NG_027823.1:g.63364_63368del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368990.7:c.*3003_*3007del | ENSP00000357986.3:n.*3003_*3007del | |
| NM_001001974.3:c.*3003_*3007del | NP_001001974.1:n.*3003_*3007del | |
| NM_001195608.2:c.*3358_*3362del | NP_001182537.1:n.*3358_*3362del | |
| NM_001330178.2:c.*3107_*3111del | NP_001317107.1:n.*3107_*3111del | |
| NM_001377230.1:c.*3003_*3007del | NP_001364159.1:n.*3003_*3007del | |
| NM_001377231.1:c.*3003_*3007del | NP_001364160.1:n.*3003_*3007del | |
| NM_001377232.1:c.*3003_*3007del | NP_001364161.1:n.*3003_*3007del | |
| NM_001377234.1:c.*3003_*3007del | NP_001364163.1:n.*3003_*3007del | |
| NM_001377235.1:c.*3003_*3007del | NP_001364164.1:n.*3003_*3007del | |
| NM_001377237.1:c.*3358_*3362del | NP_001364166.1:n.*3358_*3362del | |
| NM_001377238.1:c.*3358_*3362del | NP_001364167.1:n.*3358_*3362del | |
| NM_001377240.1:c.*3107_*3111del | NP_001364169.1:n.*3107_*3111del | |
| NM_001377241.1:c.*3107_*3111del | NP_001364170.1:n.*3107_*3111del | |
| NM_001377242.1:c.*3107_*3111del | NP_001364171.1:n.*3107_*3111del | |
| NM_001377243.1:c.*3107_*3111del | NP_001364172.1:n.*3107_*3111del | |
| NM_001377244.1:c.*3107_*3111del | NP_001364173.1:n.*3107_*3111del | |
| NM_001377245.1:c.*3107_*3111del | NP_001364174.1:n.*3107_*3111del | |
| NM_001377246.1:c.*3107_*3111del | NP_001364175.1:n.*3107_*3111del | |
| NM_001377247.1:c.*3003_*3007del | NP_001364176.1:n.*3003_*3007del | |
| NM_001377248.1:c.*3107_*3111del | NP_001364177.1:n.*3107_*3111del | |
| NM_001377249.1:c.*3003_*3007del | NP_001364178.1:n.*3003_*3007del | |
| NM_001377250.1:c.*3107_*3111del | NP_001364179.1:n.*3107_*3111del | |
| NM_001377251.1:c.*3107_*3111del | NP_001364180.1:n.*3107_*3111del | |
| NM_001377252.1:c.*3003_*3007del | NP_001364181.1:n.*3003_*3007del | |
| NM_001377253.1:c.*3003_*3007del | NP_001364182.1:n.*3003_*3007del | |
| NM_001377254.1:c.*3003_*3007del | NP_001364183.1:n.*3003_*3007del | |
| NM_001377255.1:c.*3107_*3111del | NP_001364184.1:n.*3107_*3111del | |
| NM_001377256.1:c.*3107_*3111del | NP_001364185.1:n.*3107_*3111del | |
| NM_001377257.1:c.*3107_*3111del | NP_001364186.1:n.*3107_*3111del | |
| NM_001377258.1:c.*3350_*3354del | NP_001364187.1:n.*3350_*3354del | |
| NM_021622.5:c.*3003_*3007del | NP_067635.2:n.*3003_*3007del | |
| NR_165160.1:n.4496_4500del | ||
| NR_165161.1:n.4444_4448del | ||
| NR_165162.1:n.4309_4313del | ||
| NR_165164.1:n.4361_4365del | ||
| NR_165165.1:n.4455_4459del |