ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45876265_45876266del , CM000680.2:g.45876265_45876266del | GRCh38 |
| NC_000018.9:g.43456230_43456231del , CM000680.1:g.43456230_43456231del | GRCh37 |
| NC_000018.8:g.41710228_41710229del | NCBI36 |
| NG_042838.1:g.96075_96076del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586655.2:n.4281_4282del | ||
| ENST00000587884.2:c.6146_6147del | ENSP00000466990.2:n.6146_6147del | |
| ENST00000587973.2:n.1885_1886del | ||
| ENST00000590884.6:c.5886+2111_5886+2112del | ENSP00000466403.2:n.5886+2111_5886+2112del | |
| ENST00000592272.6:c.5942+2111_5942+2112del | ENSP00000467464.2:n.5942+2111_5942+2112del | |
| ENST00000696481.1:n.2652_2653del | ||
| ENST00000696482.1:c.5760_5761del | ENSP00000512656.1:n.5760_5761del | |
| ENST00000696483.1:c.6020_6021del | ENSP00000512657.1:p.Cys2007TyrfsTer2 | |
| ENST00000696484.1:c.6020_6021del | ENSP00000512658.1:p.Cys2007TyrfsTer2 | |
| ENST00000696485.1:c.*612_*613del | ENSP00000512659.1:n.*612_*613del | |
| ENST00000696489.1:c.6017_6018del | ENSP00000512660.1:p.Cys2006TyrfsTer2 | |
| ENST00000696490.1:c.6020_6021del | ENSP00000512661.1:p.Cys2007TyrfsTer2 | |
| ENST00000282041.11:c.6020_6021del MANE Select | ENSP00000282041.4:p.Cys2007TyrfsTer2 | |
| ENST00000282041.9:c.6020_6021del | ENSP00000282041.4:p.Cys2007TyrfsTer2 | |
| ENST00000585906.5:n.2799_2800del | ||
| ENST00000587884.1:c.*1760_*1761del | ENSP00000466990.1:n.*1760_*1761del | |
| ENST00000590884.5:c.*537+2111_*537+2112del | ENSP00000466403.1:n.*537+2111_*537+2112del | |
| ENST00000592272.5:c.2567+2111_2567+2112del | ENSP00000467464.1:n.2567+2111_2567+2112del | |
| NM_020964.2:c.6020_6021del | NP_066015.2:p.Cys2007TyrfsTer2 | |
| XM_011526120.1:c.6047_6048del | XP_011524422.1:p.Cys2016TyrfsTer2 | |
| XM_011526121.1:c.6044_6045del | XP_011524423.1:p.Cys2015TyrfsTer2 | |
| XM_011526122.1:c.6020_6021del | XP_011524424.1:p.Cys2007TyrfsTer2 | |
| XM_011526123.1:c.6047_6048del | XP_011524425.1:p.Cys2016TyrfsTer2 | |
| XM_011526124.1:c.6047_6048del | XP_011524426.1:p.Cys2016TyrfsTer2 | |
| XM_011526125.1:c.5906_5907del | XP_011524427.1:p.Cys1969TyrfsTer2 | |
| XM_011526126.1:c.4982_4983del | XP_011524428.1:p.Cys1661TyrfsTer2 | |
| XM_011526127.1:c.5969+2111_5969+2112del | XP_011524429.1:n.5969+2111_5969+2112del | |
| XR_935244.1:n.6042+2111_6042+2112del | ||
| NM_020964.3:c.6020_6021del MANE Select | NP_066015.2:p.Cys2007TyrfsTer2 | |
| XM_017025889.1:c.6017_6018del | XP_016881378.1:p.Cys2006TyrfsTer2 | |
| XM_017025890.2:c.6020_6021del | XP_016881379.1:p.Cys2007TyrfsTer2 | |
| XM_017025891.1:c.5879_5880del | XP_016881380.1:p.Cys1960TyrfsTer2 | |
| XM_017025892.1:c.4955_4956del | XP_016881381.1:p.Cys1652TyrfsTer2 | |
| XM_017025893.1:c.2645_2646del | XP_016881382.1:p.Cys882TyrfsTer2 | |
| XR_001753256.1:n.6024+2111_6024+2112del | ||
| XR_001753257.1:n.6043_6044del |