Linked Data
ClinVar Variation Id:
419562
ClinVar RCV Id:
RCV000483068
dbSNP Id:
rs1064793955
PubMed:
PMID:26785492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41934196del , CM000670.2:g.41934196del | GRCh38 |
| NC_000008.10:g.41791714del , CM000670.1:g.41791714del | GRCh37 |
| NC_000008.9:g.41910871del | NCBI36 |
| NG_042093.1:g.122832del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265713.8:c.4025del MANE Select | ENSP00000265713.2:p.Lys1342ArgfsTer11 | |
| ENST00000396930.4:c.4025del | ENSP00000380136.3:p.Lys1342ArgfsTer11 | |
| ENST00000406337.6:c.4031del | ENSP00000385888.2:p.Lys1344ArgfsTer11 | |
| ENST00000648335.1:c.4025del | ENSP00000497086.1:p.Lys1342ArgfsTer11 | |
| ENST00000649817.1:c.2706del | ||
| ENST00000265713.6:c.4025del | ENSP00000265713.2:p.Lys1342ArgfsTer11 | |
| ENST00000396930.3:c.4025del | ENSP00000380136.3:p.Lys1342ArgfsTer11 | |
| ENST00000406337.5:c.4025del | ENSP00000385888.1:p.Lys1342ArgfsTer11 | |
| NM_001099412.1:c.4025del | NP_001092882.1:p.Lys1342ArgfsTer11 | |
| NM_001099413.1:c.4025del | NP_001092883.1:p.Lys1342ArgfsTer11 | |
| NM_006766.3:c.4025del | NP_006757.2:p.Lys1342ArgfsTer11 | |
| NM_006766.4:c.4025del | NP_006757.2:p.Lys1342ArgfsTer11 | |
| XM_011544656.1:c.4157del | XP_011542958.1:p.Lys1386ArgfsTer11 | |
| XM_011544657.1:c.4157del | XP_011542959.1:p.Lys1386ArgfsTer11 | |
| XM_011544658.1:c.4157del | XP_011542960.1:p.Lys1386ArgfsTer11 | |
| XM_011544659.1:c.4136del | XP_011542961.1:p.Lys1379ArgfsTer11 | |
| XM_011544660.1:c.4043del | XP_011542962.1:p.Lys1348ArgfsTer11 | |
| XM_011544656.2:c.4157del | XP_011542958.1:p.Lys1386ArgfsTer11 | |
| XM_011544657.3:c.4157del | XP_011542959.1:p.Lys1386ArgfsTer11 | |
| XM_011544658.3:c.4157del | XP_011542960.1:p.Lys1386ArgfsTer11 | |
| XM_011544659.2:c.4136del | XP_011542961.1:p.Lys1379ArgfsTer11 | |
| XM_017013863.1:c.4025del | XP_016869352.1:p.Lys1342ArgfsTer11 | |
| XM_017013864.2:c.4025del | XP_016869353.1:p.Lys1342ArgfsTer11 | |
| XM_024447285.1:c.2597del | XP_024303053.1:p.Lys866ArgfsTer11 | |
| NM_006766.5:c.4025del MANE Select | NP_006757.2:p.Lys1342ArgfsTer11 |