ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45887738del , CM000680.2:g.45887738del | GRCh38 |
| NC_000018.9:g.43467703del , CM000680.1:g.43467703del | GRCh37 |
| NC_000018.8:g.41721701del | NCBI36 |
| NG_042838.1:g.84602del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586655.2:n.3426+13del | ||
| ENST00000587884.2:c.5235+13del | ENSP00000466990.2:n.5235+13del | |
| ENST00000587973.2:n.974+13del | ||
| ENST00000590884.6:c.5109+13del | ENSP00000466403.2:n.5109+13del | |
| ENST00000592272.6:c.5109+13del | ENSP00000467464.2:n.5109+13del | |
| ENST00000696481.1:n.1741+13del | ||
| ENST00000696482.1:c.4849+13del | ENSP00000512656.1:n.4849+13del | |
| ENST00000696483.1:c.5109+13del | ENSP00000512657.1:n.5109+13del | |
| ENST00000696484.1:c.5109+13del | ENSP00000512658.1:n.5109+13del | |
| ENST00000696485.1:c.5109+13del | ENSP00000512659.1:n.5109+13del | |
| ENST00000696489.1:c.5109+13del | ENSP00000512660.1:n.5109+13del | |
| ENST00000696490.1:c.5109+13del | ENSP00000512661.1:n.5109+13del | |
| ENST00000282041.11:c.5109+13del MANE Select | ENSP00000282041.4:n.5109+13del | |
| ENST00000282041.9:c.5109+13del | ENSP00000282041.4:n.5109+13del | |
| ENST00000585906.5:n.1888+13del | ||
| ENST00000587884.1:c.*849+13del | ENSP00000466990.1:n.*849+13del | |
| ENST00000590884.5:c.1734+13del | ENSP00000466403.1:n.1734+13del | |
| ENST00000592272.5:c.1734+13del | ENSP00000467464.1:n.1734+13del | |
| NM_020964.2:c.5109+13del | NP_066015.2:n.5109+13del | |
| XM_011526120.1:c.5136+13del | XP_011524422.1:n.5136+13del | |
| XM_011526121.1:c.5136+13del | XP_011524423.1:n.5136+13del | |
| XM_011526122.1:c.5109+13del | XP_011524424.1:n.5109+13del | |
| XM_011526123.1:c.5136+13del | XP_011524425.1:n.5136+13del | |
| XM_011526124.1:c.5136+13del | XP_011524426.1:n.5136+13del | |
| XM_011526125.1:c.4995+13del | XP_011524427.1:n.4995+13del | |
| XM_011526126.1:c.4071+13del | XP_011524428.1:n.4071+13del | |
| XM_011526127.1:c.5136+13del | XP_011524429.1:n.5136+13del | |
| XM_011526128.1:c.5136+13del | XP_011524430.1:n.5136+13del | |
| XR_935244.1:n.5209+13del | ||
| NM_020964.3:c.5109+13del MANE Select | NP_066015.2:n.5109+13del | |
| XM_017025889.1:c.5109+13del | XP_016881378.1:n.5109+13del | |
| XM_017025890.2:c.5109+13del | XP_016881379.1:n.5109+13del | |
| XM_017025891.1:c.4968+13del | XP_016881380.1:n.4968+13del | |
| XM_017025892.1:c.4044+13del | XP_016881381.1:n.4044+13del | |
| XM_017025893.1:c.1734+13del | XP_016881382.1:n.1734+13del | |
| XR_001753256.1:n.5191+13del | ||
| XR_001753257.1:n.5191+13del |