Linked Data
ClinVar Variation Id:
163379
ClinVar RCV Id:
RCV000150628
dbSNP Id:
rs1554353237
PubMed:
PMID:18176089
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55191753_55191840del , CM000669.2:g.55191753_55191840del | GRCh38 |
| NC_000007.13:g.55259446_55259533del , CM000669.1:g.55259446_55259533del | GRCh37 |
| NC_000007.12:g.55226940_55227027del | NCBI36 |
| NG_007726.3:g.177722_177809del , LRG_304:g.177722_177809del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2345_2432del | ENSP00000413354.2:p.His782ArgfsTer? | |
| ENST00000700145.1:c.853_899+41del | ||
| ENST00000275493.7:c.2504_2591del MANE Select | ENSP00000275493.2:p.His835ArgfsTer? | |
| ENST00000275493.6:c.2504_2591del | ENSP00000275493.2:p.His835ArgfsTer? | |
| ENST00000442591.5:c.*28+18825_*28+18912del | ENSP00000410031.1:n.*28+18825_*28+18912de... | |
| ENST00000454757.6:c.2369_2456del | ENSP00000395243.3:p.His790ArgfsTer? | |
| ENST00000455089.5:c.2369_2456del | ENSP00000415559.1:p.His790ArgfsTer? | |
| NM_005228.3:c.2504_2591del , LRG_304t1:c.2504_2591del | NP_005219.2:p.His835ArgfsTer? | |
| NM_001346897.1:c.2369_2456del | NP_001333826.1:p.His790ArgfsTer? | |
| NM_001346898.1:c.2504_2591del | NP_001333827.1:p.His835ArgfsTer? | |
| NM_001346899.1:c.2369_2456del | NP_001333828.1:p.His790ArgfsTer? | |
| NM_001346900.1:c.2345_2432del | NP_001333829.1:p.His782ArgfsTer? | |
| NM_001346941.1:c.1703_1790del | NP_001333870.1:p.His568ArgfsTer? | |
| NM_005228.4:c.2504_2591del | NP_005219.2:p.His835ArgfsTer? | |
| NM_005228.5:c.2504_2591del MANE Select | NP_005219.2:p.His835ArgfsTer? | |
| NM_001346897.2:c.2369_2456del | NP_001333826.1:p.His790ArgfsTer? | |
| NM_001346898.2:c.2504_2591del | NP_001333827.1:p.His835ArgfsTer? | |
| NM_001346900.2:c.2345_2432del | NP_001333829.1:p.His782ArgfsTer? | |
| NM_001346941.2:c.1703_1790del | NP_001333870.1:p.His568ArgfsTer? | |
| NM_001346899.2:c.2369_2456del | NP_001333828.1:p.His790ArgfsTer? |