UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
56647
ClinVar RCV Id:
RCV000050060
dbSNP Id:
rs386834072
gnomAD v4:
8-99134691-AGTATT-A
PubMed:
PMID:19006247
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99134694_99134698del , CM000670.2:g.99134694_99134698del | GRCh38 |
| NC_000008.10:g.100146922_100146926del , CM000670.1:g.100146922_100146926del | GRCh37 |
| NC_000008.9:g.100216098_100216102del | NCBI36 |
| NG_007098.2:g.126429_126433del , LRG_351:g.126429_126433del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355155.6:c.1269_1273del | ENSP00000347281.2:p.Cys425GlyfsTer8 | |
| ENST00000682145.1:n.1338_1342del | ||
| ENST00000682153.1:c.1269_1273del | ENSP00000507923.1:p.Cys425GlyfsTer8 | |
| ENST00000682234.1:c.1269_1273del | ENSP00000508225.1:p.Cys425GlyfsTer8 | |
| ENST00000682358.1:n.1339_1343del | ||
| ENST00000682853.1:n.1489_1493del | ||
| ENST00000683334.1:c.1269_1273del | ENSP00000507369.1:p.Cys425GlyfsTer8 | |
| ENST00000683486.1:n.1335_1339del | ||
| ENST00000683619.1:n.1372_1376del | ||
| ENST00000683869.1:n.1350_1354del | ||
| ENST00000684269.1:n.1370_1374del | ||
| ENST00000684308.1:n.1335_1339del | ||
| ENST00000357162.7:c.1269_1273del MANE Select | ENSP00000349685.2:p.Cys425GlyfsTer8 | |
| ENST00000358544.7:c.1269_1273del MANE Plus Clinical | ENSP00000351346.2:p.Cys425GlyfsTer8 | |
| ENST00000355155.5:c.1269_1273del | ENSP00000347281.1:p.Cys425GlyfsTer8 | |
| ENST00000357162.6:c.1269_1273del | ENSP00000349685.2:p.Cys425GlyfsTer8 | |
| ENST00000358544.6:c.1269_1273del | ENSP00000351346.2:p.Cys425GlyfsTer8 | |
| ENST00000496144.5:c.1269_1273del | ENSP00000430900.1:p.Cys425GlyfsTer8 | |
| NM_015243.2:c.1269_1273del , LRG_351t3:c.1269_1273del | NP_056058.2:p.Cys425GlyfsTer8 | |
| NM_017890.4:c.1269_1273del , LRG_351t1:c.1269_1273del | NP_060360.3:p.Cys425GlyfsTer8 | |
| NM_152564.4:c.1269_1273del , LRG_351t2:c.1269_1273del | NP_689777.3:p.Cys425GlyfsTer8 | |
| XM_005250800.2:c.1269_1273del | XP_005250857.1:p.Cys425GlyfsTer8 | |
| XM_005250801.3:c.1269_1273del | XP_005250858.1:p.Cys425GlyfsTer8 | |
| XM_006716510.2:c.1269_1273del | XP_006716573.1:p.Cys425GlyfsTer8 | |
| XM_006716511.2:c.1269_1273del | XP_006716574.1:p.Cys425GlyfsTer8 | |
| XM_011516848.1:c.1269_1273del | XP_011515150.1:p.Cys425GlyfsTer8 | |
| XM_011516849.1:c.1269_1273del | XP_011515151.1:p.Cys425GlyfsTer8 | |
| XM_011516850.1:c.891_895del | XP_011515152.1:p.Cys299GlyfsTer8 | |
| XM_011516853.1:c.1269_1273del | XP_011515155.1:p.Cys425GlyfsTer8 | |
| XM_011516855.1:c.1269_1273del | XP_011515157.1:p.Cys425GlyfsTer8 | |
| XM_011516856.1:c.1269_1273del | XP_011515158.1:p.Cys425GlyfsTer8 | |
| XM_011516857.1:c.1269_1273del | XP_011515159.1:p.Cys425GlyfsTer8 | |
| XM_011516858.1:c.1269_1273del | XP_011515160.1:p.Cys425GlyfsTer8 | |
| XM_011516859.1:c.1269_1273del | XP_011515161.1:p.Cys425GlyfsTer8 | |
| XM_011516860.1:c.1269_1273del | XP_011515162.1:p.Cys425GlyfsTer8 | |
| XM_011516861.1:c.1269_1273del | XP_011515163.1:p.Cys425GlyfsTer8 | |
| XM_011516862.1:c.1269_1273del | XP_011515164.1:p.Cys425GlyfsTer8 | |
| XM_011516863.1:c.1269_1273del | XP_011515165.1:p.Cys425GlyfsTer8 | |
| XM_011516864.1:c.1269_1273del | XP_011515166.1:p.Cys425GlyfsTer8 | |
| XM_011516865.1:c.1269_1273del | XP_011515167.1:p.Cys425GlyfsTer8 | |
| XM_011516866.1:c.1269_1273del | XP_011515168.1:p.Cys425GlyfsTer8 | |
| XR_928301.1:n.1372_1376del | ||
| XR_928302.1:n.1372_1376del | ||
| XR_928303.1:n.1372_1376del | ||
| XR_928304.1:n.1372_1376del | ||
| XM_005250800.3:c.1269_1273del | XP_005250857.1:p.Cys425GlyfsTer8 | |
| XM_005250801.5:c.1269_1273del | XP_005250858.1:p.Cys425GlyfsTer8 | |
| XM_006716510.3:c.1269_1273del | XP_006716573.1:p.Cys425GlyfsTer8 | |
| XM_011516848.2:c.1269_1273del | XP_011515150.1:p.Cys425GlyfsTer8 | |
| XM_011516849.2:c.1269_1273del | XP_011515151.1:p.Cys425GlyfsTer8 | |
| XM_011516850.2:c.891_895del | XP_011515152.1:p.Cys299GlyfsTer8 | |
| XM_011516853.2:c.1269_1273del | XP_011515155.1:p.Cys425GlyfsTer8 | |
| XM_011516859.2:c.1269_1273del | XP_011515161.1:p.Cys425GlyfsTer8 | |
| XM_011516866.2:c.1269_1273del | XP_011515168.1:p.Cys425GlyfsTer8 | |
| XM_017013109.1:c.1269_1273del | XP_016868598.1:p.Cys425GlyfsTer8 | |
| XM_024447074.1:c.54_58del | XP_024302842.1:p.Cys20GlyfsTer8 | |
| XM_024447075.1:c.1269_1273del | XP_024302843.1:p.Cys425GlyfsTer8 | |
| XR_001745481.1:n.1372_1376del | ||
| XR_001745482.2:n.1372_1376del | ||
| XR_001745484.2:n.1372_1376del | ||
| XR_002956601.1:n.1372_1376del | ||
| XR_002956602.1:n.1372_1376del | ||
| XR_928302.2:n.1372_1376del | ||
| NM_015243.3:c.1269_1273del | NP_056058.2:p.Cys425GlyfsTer8 | |
| NM_017890.5:c.1269_1273del MANE Plus Clinical | NP_060360.3:p.Cys425GlyfsTer8 | |
| NM_152564.5:c.1269_1273del MANE Select | NP_689777.3:p.Cys425GlyfsTer8 |