Linked Data
dbSNP Id:
rs764253801
gnomAD v2:
9-130630730-AGCCGCTGGGTCATGGTCTCAGG-A
gnomAD v4:
9-127868451-AGCCGCTGGGTCATGGTCTCAGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127868455_127868476del , CM000671.2:g.127868455_127868476del | GRCh38 |
| NC_000009.11:g.130630734_130630755del , CM000671.1:g.130630734_130630755del | GRCh37 |
| NC_000009.10:g.129670555_129670576del | NCBI36 |
| NG_011792.1:g.14271_14292del | |
| NG_011792.2:g.14271_14292del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476274.7:n.864_885del | ||
| ENST00000643029.1:c.*2039_*2060del | ENSP00000496586.1:n.*2039_*2060del | |
| ENST00000643338.1:c.*1928_*1949del | ENSP00000495890.1:n.*1928_*1949del | |
| ENST00000644144.2:c.364_385del MANE Select | ENSP00000494600.1:p.Pro122SerfsTer2 | |
| ENST00000645007.1:c.*2288_*2309del | ENSP00000494773.1:n.*2288_*2309del | |
| ENST00000646171.1:c.*397_*418del | ENSP00000495484.1:n.*397_*418del | |
| ENST00000223836.10:c.412_433del | ENSP00000223836.10:p.Pro138SerfsTer2 | |
| ENST00000373156.5:c.364_385del | ENSP00000362249.1:p.Pro122SerfsTer2 | |
| ENST00000373176.5:c.364_385del | ENSP00000362271.1:p.Pro122SerfsTer2 | |
| ENST00000413016.5:c.186_207del | ||
| ENST00000550143.5:c.144_165del | ||
| NM_000476.2:c.364_385del | NP_000467.1:p.Pro122SerfsTer2 | |
| XM_005251786.2:c.412_433del | XP_005251843.1:p.Pro138SerfsTer2 | |
| XM_011518348.1:c.364_385del | XP_011516650.1:p.Pro122SerfsTer2 | |
| XM_011518349.1:c.184_205del | XP_011516651.1:p.Pro62SerfsTer2 | |
| NM_001318121.1:c.364_385del | NP_001305050.1:p.Pro122SerfsTer2 | |
| NM_001318122.1:c.412_433del | NP_001305051.1:p.Pro138SerfsTer2 | |
| XM_017014428.1:c.364_385del | XP_016869917.1:p.Pro122SerfsTer2 | |
| XM_024447439.1:c.343_364del | XP_024303207.1:p.Pro115SerfsTer2 | |
| XM_024447440.1:c.184_205del | XP_024303208.1:p.Pro62SerfsTer2 | |
| NM_001318122.2:c.412_433del | NP_001305051.1:p.Pro138SerfsTer2 | |
| NM_000476.3:c.364_385del MANE Select | NP_000467.1:p.Pro122SerfsTer2 | |
| NR_174625.1:n.3683_3704del | ||
| NR_174626.1:n.3526_3547del | ||
| NR_174627.1:n.3563_3584del | ||
| NR_174628.1:n.2941_2962del | ||
| NR_174629.1:n.2886_2907del | ||
| NR_174630.1:n.2922_2943del | ||
| NR_174631.1:n.2867_2888del | ||
| NR_174632.1:n.2956_2977del |