Linked Data
ClinVar Variation Id:
370204
ClinVar RCV Id:
RCV000409725
dbSNP Id:
rs1057516312
gnomAD v4:
5-119531315-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119531318del , CM000667.2:g.119531318del | GRCh38 |
| NC_000005.9:g.118867013del , CM000667.1:g.118867013del | GRCh37 |
| NC_000005.8:g.118894912del | NCBI36 |
| NG_008182.1:g.83866del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000509514.6:c.1838del | ENSP00000426272.2:p.Lys613ArgfsTer8 | |
| ENST00000518349.6:c.1151del | ENSP00000507185.1:p.Lys384ArgfsTer8 | |
| ENST00000682445.1:c.*1788del | ENSP00000508061.1:n.*1788del | |
| ENST00000682531.1:n.3799del | ||
| ENST00000682626.1:c.*1413del | ENSP00000507857.1:n.*1413del | |
| ENST00000682996.1:c.1835del | ENSP00000507792.1:p.Lys612ArgfsTer8 | |
| ENST00000683265.1:n.3693del | ||
| ENST00000683335.1:n.3309del | ||
| ENST00000683371.1:c.*2037del | ENSP00000508376.1:n.*2037del | |
| ENST00000683372.1:n.3917del | ||
| ENST00000683390.1:n.3597del | ||
| ENST00000683476.1:n.749del | ||
| ENST00000683549.1:n.3521del | ||
| ENST00000683936.1:c.*3485del | ENSP00000507721.1:n.*3485del | |
| ENST00000683974.1:n.3636del | ||
| ENST00000683996.1:c.*1117del | ENSP00000507060.1:n.*1117del | |
| ENST00000684131.1:n.3439del | ||
| ENST00000684160.1:c.*1597del | ENSP00000507821.1:n.*1597del | |
| ENST00000684214.1:c.1854+1338del | ENSP00000508071.1:n.1854+1338del | |
| ENST00000414835.7:c.1982del | ENSP00000411960.3:p.Lys661ArgfsTer8 | |
| ENST00000510025.7:c.1907del MANE Select | ENSP00000424940.3:p.Lys636ArgfsTer8 | |
| ENST00000643250.1:c.*1779del | ENSP00000494737.1:n.*1779del | |
| ENST00000644146.1:c.*3178del | ENSP00000494808.1:n.*3178del | |
| ENST00000645099.1:c.1466del | ENSP00000496091.1:p.Lys489ArgfsTer8 | |
| ENST00000645702.1:c.*1310del | ENSP00000496432.1:n.*1310del | |
| ENST00000645832.1:c.*1792del | ENSP00000494316.1:n.*1792del | |
| ENST00000646058.1:c.1907del | ENSP00000493579.1:p.Lys636ArgfsTer8 | |
| ENST00000646355.1:c.*1913del | ENSP00000493801.1:n.*1913del | |
| ENST00000646554.1:c.*1885del | ENSP00000494542.1:n.*1885del | |
| ENST00000647335.1:c.*1874del | ENSP00000495180.1:n.*1874del | |
| ENST00000647342.1:c.*1838del | ENSP00000494992.1:n.*1838del | |
| ENST00000256216.10:c.1907del | ENSP00000256216.6:p.Lys636ArgfsTer8 | |
| ENST00000414835.6:c.1487del | ENSP00000411960.2:p.Lys496ArgfsTer8 | |
| ENST00000442060.7:c.*462del | ENSP00000390208.3:n.*462del | |
| ENST00000504811.5:c.1982del | ENSP00000420914.1:p.Lys661ArgfsTer8 | |
| ENST00000509514.5:c.1121del | ENSP00000426272.1:p.Lys374ArgfsTer8 | |
| ENST00000509606.1:n.202del | ||
| ENST00000509951.5:n.309+1338del | ||
| ENST00000510025.5:c.1835del | ENSP00000424940.1:p.Lys612ArgfsTer8 | |
| ENST00000513628.5:c.1496del | ENSP00000425993.1:p.Lys499ArgfsTer8 | |
| ENST00000515235.6:n.3660del | ||
| ENST00000515320.5:c.1853del | ENSP00000424613.1:p.Lys618ArgfsTer8 | |
| ENST00000522415.5:n.574del | ||
| NM_000414.3:c.1907del | NP_000405.1:p.Lys636ArgfsTer8 | |
| NM_001199291.2:c.1982del | NP_001186220.1:p.Lys661ArgfsTer8 | |
| NM_001199292.1:c.1853del | NP_001186221.1:p.Lys618ArgfsTer8 | |
| NM_001292027.1:c.1835del | NP_001278956.1:p.Lys612ArgfsTer8 | |
| NM_001292028.1:c.1487del | NP_001278957.1:p.Lys496ArgfsTer8 | |
| NM_000414.4:c.1907del MANE Select | NP_000405.1:p.Lys636ArgfsTer8 | |
| NM_001199291.3:c.1982del | NP_001186220.1:p.Lys661ArgfsTer8 | |
| NM_001199292.2:c.1853del | NP_001186221.1:p.Lys618ArgfsTer8 | |
| NM_001292027.2:c.1835del | NP_001278956.1:p.Lys612ArgfsTer8 | |
| NM_001292028.2:c.1487del | NP_001278957.1:p.Lys496ArgfsTer8 | |
| NM_001374497.1:c.1898del | NP_001361426.1:p.Lys633ArgfsTer8 | |
| NM_001374498.1:c.1835del | NP_001361427.1:p.Lys612ArgfsTer8 | |
| NM_001374499.1:c.1580del | NP_001361428.1:p.Lys527ArgfsTer8 | |
| NM_001374500.1:c.1466del | NP_001361429.1:p.Lys489ArgfsTer8 | |
| NM_001374501.1:c.1496del | NP_001361430.1:p.Lys499ArgfsTer8 | |
| NM_001374502.1:c.1496del | NP_001361431.1:p.Lys499ArgfsTer8 | |
| NM_001374503.1:c.1496del | NP_001361432.1:p.Lys499ArgfsTer8 | |
| NR_164653.1:n.2004del | ||
| NR_164654.1:n.2272del |