ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201361981_201361983del , CM000663.2:g.201361981_201361983del | GRCh38 |
| NC_000001.10:g.201331109_201331111del , CM000663.1:g.201331109_201331111del | GRCh37 |
| NC_000001.9:g.199597732_199597734del | NCBI36 |
| NG_007556.1:g.20705_20707del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455702.7:c.644_646del | ENSP00000402238.3:p.Lys215del | |
| ENST00000367318.10:c.629_631del | ENSP00000356287.5:p.Lys210del | |
| ENST00000367322.6:c.617_619del | ENSP00000356291.2:p.Lys206del | |
| ENST00000412633.3:c.620_622del | ENSP00000408731.2:p.Lys207del | |
| ENST00000422165.6:c.650_652del | ENSP00000395163.2:p.Lys217del | |
| ENST00000438742.6:c.608_610del | ENSP00000414036.2:p.Lys203del | |
| ENST00000455702.6:c.644_646del | ENSP00000402238.2:p.Lys215del | |
| ENST00000651504.1:n.1120_1122del | ||
| ENST00000656932.1:c.659_661del MANE Select | ENSP00000499593.1:p.Lys220del | |
| ENST00000658476.1:c.629_631del | ENSP00000499741.1:p.Lys210del | |
| ENST00000660295.1:c.629_631del | ENSP00000499418.1:p.Lys210del | |
| ENST00000662159.1:c.*18_*20del | ENSP00000499796.1:n.*18_*20del | |
| ENST00000663843.1:c.*559_*561del | ENSP00000499590.1:n.*559_*561del | |
| ENST00000666449.1:c.629_631del | ENSP00000499667.1:p.Lys210del | |
| ENST00000236918.11:c.659_661del | ENSP00000236918.8:p.Lys220del | |
| ENST00000360372.8:c.530_532del | ENSP00000353535.5:p.Lys177del | |
| ENST00000367315.6:c.638_640del | ENSP00000356284.3:p.Lys213del | |
| ENST00000367317.8:c.611_613del | ENSP00000356286.5:p.Lys204del | |
| ENST00000367318.9:c.629_631del | ENSP00000356287.5:p.Lys210del | |
| ENST00000367320.6:c.530_532del | ENSP00000356289.2:p.Lys177del | |
| ENST00000367322.5:c.620_622del | ENSP00000356291.1:p.Lys207del | |
| ENST00000421663.6:c.443_445del | ENSP00000404134.3:p.Lys148del | |
| ENST00000438742.5:c.611_613del | ENSP00000414036.1:p.Lys204del | |
| ENST00000458432.6:c.443_445del | ENSP00000387874.3:p.Lys148del | |
| ENST00000460780.5:n.952_954del | ||
| ENST00000476888.5:n.114_116del | ||
| ENST00000491504.5:n.1868_1870del | ||
| ENST00000509001.5:c.629_631del | ENSP00000422031.1:p.Lys210del | |
| ENST00000515042.5:n.555_557del | ||
| NM_000364.3:c.650_652del | NP_000355.2:p.Lys217del | |
| NM_001001430.2:c.629_631del | NP_001001430.1:p.Lys210del | |
| NM_001001431.2:c.620_622del | NP_001001431.1:p.Lys207del | |
| NM_001001432.2:c.611_613del | NP_001001432.1:p.Lys204del | |
| NM_001276345.1:c.659_661del | NP_001263274.1:p.Lys220del | |
| NM_001276346.1:c.530_532del | NP_001263275.1:p.Lys177del | |
| NM_001276347.1:c.629_631del | NP_001263276.1:p.Lys210del | |
| XM_006711508.2:c.629_631del | XP_006711571.1:p.Lys210del | |
| XM_006711509.2:c.626_628del | XP_006711572.1:p.Lys209del | |
| XM_011509938.1:c.659_661del | XP_011508240.1:p.Lys220del | |
| XM_011509939.1:c.656_658del | XP_011508241.1:p.Lys219del | |
| XM_011509940.1:c.656_658del | XP_011508242.1:p.Lys219del | |
| XM_011509941.1:c.653_655del | XP_011508243.1:p.Lys218del | |
| XM_011509942.1:c.614_616del | XP_011508244.1:p.Lys205del | |
| XM_011509943.1:c.614_616del | XP_011508245.1:p.Lys205del | |
| XM_011509944.1:c.611_613del | XP_011508246.1:p.Lys204del | |
| XM_011509946.1:c.452_454del | XP_011508248.1:p.Lys151del | |
| XM_006711508.3:c.629_631del | XP_006711571.1:p.Lys210del | |
| XM_006711509.3:c.626_628del | XP_006711572.1:p.Lys209del | |
| XM_011509938.2:c.659_661del | XP_011508240.1:p.Lys220del | |
| XM_011509940.2:c.656_658del | XP_011508242.1:p.Lys219del | |
| XM_011509941.2:c.653_655del | XP_011508243.1:p.Lys218del | |
| XM_011509942.2:c.614_616del | XP_011508244.1:p.Lys205del | |
| XM_011509943.2:c.614_616del | XP_011508245.1:p.Lys205del | |
| XM_011509944.2:c.611_613del | XP_011508246.1:p.Lys204del | |
| XM_017002216.2:c.626_628del | XP_016857705.1:p.Lys209del | |
| XM_017002217.1:c.620_622del | XP_016857706.1:p.Lys207del | |
| XM_024449450.1:c.659_661del | XP_024305218.1:p.Lys220del | |
| XM_024449454.1:c.626_628del | XP_024305222.1:p.Lys209del | |
| XM_024449455.1:c.626_628del | XP_024305223.1:p.Lys209del | |
| NM_000364.4:c.650_652del | NP_000355.2:p.Lys217del | |
| NM_001001430.3:c.629_631del | NP_001001430.1:p.Lys210del | |
| NM_001001431.3:c.620_622del | NP_001001431.1:p.Lys207del | |
| NM_001001432.3:c.611_613del | NP_001001432.1:p.Lys204del | |
| NM_001276345.2:c.659_661del MANE Select | NP_001263274.1:p.Lys220del | |
| NM_001276346.2:c.530_532del | NP_001263275.1:p.Lys177del | |
| NM_001276347.2:c.629_631del | NP_001263276.1:p.Lys210del |