Linked Data
dbSNP Id:
rs1215132841
gnomAD v2:
5-121786229-TC-T
gnomAD v3:
5-122450534-TC-T
gnomAD v4:
5-122450534-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.122450535del , CM000667.2:g.122450535del | GRCh38 |
| NC_000005.9:g.121786230del , CM000667.1:g.121786230del | GRCh37 |
| NC_000005.8:g.121814129del | NCBI36 |
| NG_011486.1:g.143411del | |
| NG_011486.2:g.143411del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261368.13:c.1688del MANE Select | ENSP00000261368.8:p.Ser563TyrfsTer22 | |
| ENST00000261367.11:c.1829del | ENSP00000261367.7:p.Ser610TyrfsTer22 | |
| ENST00000261368.12:c.1688del | ENSP00000261368.8:p.Ser563TyrfsTer22 | |
| ENST00000379538.7:c.590del | ENSP00000368854.3:p.Ser197TyrfsTer22 | |
| ENST00000395466.6:c.816del | ENSP00000378849.2:n.816del | |
| ENST00000395469.6:c.2054del | ENSP00000378852.2:n.2054del | |
| ENST00000414317.6:c.522del | ENSP00000394392.3:n.522del | |
| ENST00000504884.6:c.816del | ENSP00000426904.2:n.816del | |
| ENST00000508017.5:c.*435del | ENSP00000424338.1:n.*435del | |
| ENST00000509023.5:c.*333del | ENSP00000427078.1:n.*333del | |
| ENST00000509154.6:c.1508del | ENSP00000422106.2:p.Ser503TyrfsTer22 | |
| ENST00000510658.5:c.*490del | ENSP00000426526.1:n.*490del | |
| ENST00000512146.6:c.777del | ENSP00000423360.2:n.777del | |
| ENST00000512385.5:c.*435del | ENSP00000426280.1:n.*435del | |
| ENST00000513719.1:n.673del | ||
| ENST00000515215.6:c.636del | ENSP00000427575.2:n.636del | |
| ENST00000542191.5:c.*435del | ENSP00000441681.2:n.*435del | |
| NM_001242935.1:c.590del | NP_001229864.1:p.Ser197TyrfsTer22 | |
| NM_001242935.2:c.590del | NP_001229864.1:p.Ser197TyrfsTer22 | |
| NM_001308100.1:c.1829del | NP_001295029.1:p.Ser610TyrfsTer22 | |
| NM_001308105.1:c.1508del | NP_001295034.1:p.Ser503TyrfsTer22 | |
| NM_001308106.1:c.584del | NP_001295035.1:p.Ser195TyrfsTer22 | |
| NM_001308107.1:c.590del | NP_001295036.1:p.Ser197TyrfsTer22 | |
| NM_001308108.1:c.770del | NP_001295037.1:p.Ser257TyrfsTer22 | |
| NM_001308109.1:c.476del | NP_001295038.1:p.Ser159TyrfsTer22 | |
| NM_005460.2:c.1688del | NP_005451.2:p.Ser563TyrfsTer22 | |
| NM_005460.3:c.1688del | NP_005451.2:p.Ser563TyrfsTer22 | |
| NR_051996.1:n.583+12del | ||
| NR_131761.1:n.2100del | ||
| NR_131762.1:n.829del | ||
| XM_005272138.3:c.1688del | XP_005272195.1:p.Ser563TyrfsTer22 | |
| XM_005272139.1:c.1688del | XP_005272196.1:p.Ser563TyrfsTer22 | |
| XM_006714734.2:c.1688del | XP_006714797.1:p.Ser563TyrfsTer22 | |
| XM_011543736.1:c.1829del | XP_011542038.1:p.Ser610TyrfsTer22 | |
| XM_011543737.1:c.1829del | XP_011542039.1:p.Ser610TyrfsTer22 | |
| XM_011543738.1:c.1829del | XP_011542040.1:p.Ser610TyrfsTer22 | |
| XM_011543739.1:c.1829del | XP_011542041.1:p.Ser610TyrfsTer22 | |
| XM_011543741.1:c.1829del | XP_011542043.1:p.Ser610TyrfsTer22 | |
| XM_011543742.1:c.1829del | XP_011542044.1:p.Ser610TyrfsTer22 | |
| XM_011543743.1:c.1829del | XP_011542045.1:p.Ser610TyrfsTer22 | |
| XM_011543744.1:c.1829del | XP_011542046.1:p.Ser610TyrfsTer22 | |
| XM_011543745.1:c.1688del | XP_011542047.1:p.Ser563TyrfsTer22 | |
| XM_011543746.1:c.1829del | XP_011542048.1:p.Ser610TyrfsTer22 | |
| XM_011543747.1:c.1649del | XP_011542049.1:p.Ser550TyrfsTer22 | |
| XM_011543748.1:c.1508del | XP_011542050.1:p.Ser503TyrfsTer22 | |
| XM_011543749.1:c.608del | XP_011542051.1:p.Ser203TyrfsTer22 | |
| XM_011543750.1:c.584del | XP_011542052.1:p.Ser195TyrfsTer22 | |
| XM_005272138.4:c.1688del | XP_005272195.1:p.Ser563TyrfsTer22 | |
| XM_011543737.2:c.1829del | XP_011542039.1:p.Ser610TyrfsTer22 | |
| XM_011543738.2:c.1829del | XP_011542040.1:p.Ser610TyrfsTer22 | |
| XM_011543741.2:c.1829del | XP_011542043.1:p.Ser610TyrfsTer22 | |
| XM_011543743.2:c.1829del | XP_011542045.1:p.Ser610TyrfsTer22 | |
| XM_011543749.2:c.608del | XP_011542051.1:p.Ser203TyrfsTer22 | |
| XM_017010078.1:c.1829del | XP_016865567.1:p.Ser610TyrfsTer22 | |
| XM_017010079.1:c.1829del | XP_016865568.1:p.Ser610TyrfsTer22 | |
| XM_017010080.1:c.1829del | XP_016865569.1:p.Ser610TyrfsTer22 | |
| XM_017010081.1:c.1829del | XP_016865570.1:p.Ser610TyrfsTer22 | |
| XM_017010082.1:c.1688del | XP_016865571.1:p.Ser563TyrfsTer22 | |
| XM_017010083.1:c.608del | XP_016865572.1:p.Ser203TyrfsTer22 | |
| XM_017010085.1:c.584del | XP_016865574.1:p.Ser195TyrfsTer22 | |
| XM_024446266.1:c.1688del | XP_024302034.1:p.Ser563TyrfsTer22 | |
| XM_024446267.1:c.1688del | XP_024302035.1:p.Ser563TyrfsTer22 | |
| XM_024446268.1:c.1688del | XP_024302036.1:p.Ser563TyrfsTer22 | |
| XM_024446269.1:c.608del | XP_024302037.1:p.Ser203TyrfsTer22 | |
| XR_001742362.1:n.2242del | ||
| NM_005460.4:c.1688del MANE Select | NP_005451.2:p.Ser563TyrfsTer22 | |
| NM_001308100.2:c.1829del | NP_001295029.1:p.Ser610TyrfsTer22 | |
| NM_001308107.2:c.590del | NP_001295036.1:p.Ser197TyrfsTer22 | |
| NM_001308109.2:c.476del | NP_001295038.1:p.Ser159TyrfsTer22 | |
| NM_001242935.3:c.590del | NP_001229864.1:p.Ser197TyrfsTer22 |