Linked Data
ClinVar Variation Id:
484599
ClinVar RCV Id:
RCV000572870
dbSNP Id:
rs1554825249
PubMed:
PMID:9259288
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87958001_87958002del , CM000672.2:g.87958001_87958002del | GRCh38 |
| NC_000010.10:g.89717758_89717759del , CM000672.1:g.89717758_89717759del | GRCh37 |
| NC_000010.9:g.89707738_89707739del | NCBI36 |
| NG_007466.2:g.99563_99564del , LRG_311:g.99563_99564del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.783_784del | ENSP00000514759.2:p.Asn262GlnfsTer? | |
| ENST00000710265.1:c.783_784del | ENSP00000518161.1:p.Asn262GlnfsTer? | |
| ENST00000472832.3:c.783_784del | ENSP00000483066.2:p.Asn262GlnfsTer? | |
| ENST00000688158.2:n.1518_1519del | ||
| ENST00000688922.2:c.*613_*614del | ENSP00000508742.2:n.*613_*614del | |
| ENST00000700021.1:c.738_739del | ENSP00000514757.1:p.Asn247GlnfsTer? | |
| ENST00000700022.1:c.*122_*123del | ENSP00000514758.1:n.*122_*123del | |
| ENST00000700023.1:n.1941_1942del | ||
| ENST00000700024.1:n.2175_2176del | ||
| ENST00000700025.1:n.1552_1553del | ||
| ENST00000700026.1:n.420_421del | ||
| ENST00000700029.1:c.617_618del | ||
| ENST00000706954.1:c.783_784del | ENSP00000516674.1:p.Asn262GlnfsTer? | |
| ENST00000706955.1:c.*818_*819del | ENSP00000516675.1:n.*818_*819del | |
| ENST00000686459.1:c.*369_*370del | ENSP00000508909.1:n.*369_*370del | |
| ENST00000688158.1:c.*894_*895del | ENSP00000509254.1:n.*894_*895del | |
| ENST00000688308.1:c.783_784del | ENSP00000508752.1:p.Asn262GlnfsTer? | |
| ENST00000688922.1:c.704_705del | ||
| ENST00000693560.1:c.1302_1303del | ENSP00000509861.1:p.Asn435GlnfsTer? | |
| ENST00000371953.8:c.783_784del MANE Select | ENSP00000361021.3:p.Asn262GlnfsTer? | |
| ENST00000371953.7:c.783_784del | ENSP00000361021.3:p.Asn262GlnfsTer? | |
| ENST00000472832.2:c.210_211del | ENSP00000483066.1:p.Asn71GlnfsTer? | |
| NM_000314.5:c.783_784del | NP_000305.3:p.Asn262GlnfsTer? | |
| NM_000314.6:c.783_784del | NP_000305.3:p.Asn262GlnfsTer? | |
| NM_001304717.2:c.1302_1303del | NP_001291646.2:p.Asn435GlnfsTer? | |
| NM_001304718.1:c.192_193del | NP_001291647.1:p.Asn65GlnfsTer? | |
| XM_006717926.2:c.738_739del | XP_006717989.1:p.Asn247GlnfsTer? | |
| XM_011539981.1:c.783_784del | XP_011538283.1:p.Asn262GlnfsTer? | |
| XM_011539982.1:c.687_688del | XP_011538284.1:p.Asn230GlnfsTer? | |
| XR_945791.1:n.1353_1354del | ||
| NM_000314.7:c.783_784del | NP_000305.3:p.Asn262GlnfsTer? | |
| NM_001304717.5:c.1302_1303del | NP_001291646.4:p.Asn435GlnfsTer? | |
| NM_001304718.2:c.192_193del | NP_001291647.1:p.Asn65GlnfsTer? | |
| NM_000314.8:c.783_784del MANE Select | NP_000305.3:p.Asn262GlnfsTer? |