Linked Data
ClinVar Variation Id:
411756
dbSNP Id:
rs1060503467
gnomAD v4:
8-89955281-AC-A
PubMed:
PMID:27616075
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89955283del , CM000670.2:g.89955283del | GRCh38 |
| NC_000008.10:g.90967511del , CM000670.1:g.90967511del | GRCh37 |
| NC_000008.9:g.91036687del | NCBI36 |
| NG_008860.1:g.34390del , LRG_158:g.34390del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494804.2:n.2699+1del | ||
| ENST00000517337.2:c.1151+1del | ||
| ENST00000523444.2:c.1151+1del | ||
| ENST00000697292.1:c.1397+1del | ||
| ENST00000697293.1:c.1397+1del | ||
| ENST00000697294.1:c.*1008+1del | ||
| ENST00000697295.1:c.*706+1del | ||
| ENST00000697296.1:c.*1065+1del | ||
| ENST00000697297.1:n.3182+1del | ||
| ENST00000697298.1:c.1151+1del | ||
| ENST00000697299.1:c.1151+1del | ||
| ENST00000697300.1:c.*1001+1del | ||
| ENST00000697301.1:c.*918+1del | ||
| ENST00000697302.1:c.*918+1del | ||
| ENST00000697303.1:c.*1001+1del | ||
| ENST00000697304.1:c.1085+1del | ||
| ENST00000697306.1:c.*397+1del | ||
| ENST00000697307.1:c.1397+1del | ||
| ENST00000697308.1:c.1397+1del | ||
| ENST00000697309.1:c.1397+1del | ||
| ENST00000697310.1:c.1397+1del | ||
| ENST00000697311.1:c.1397+1del | ||
| ENST00000697312.1:c.*795+1del | ||
| ENST00000697313.1:n.2687+15082del | ||
| ENST00000697314.1:n.3188+1del | ||
| ENST00000697315.1:c.1397+1del | ||
| ENST00000697316.1:n.1518+1del | ||
| ENST00000697317.1:n.1507+1del | ||
| ENST00000697318.1:n.1509+1del | ||
| ENST00000265433.8:c.1397+1del | ||
| ENST00000265433.7:c.1397+1del | ||
| ENST00000396252.6:c.*1270+1del | ||
| ENST00000409330.5:c.1151+1del | ||
| NM_001024688.2:c.1151+1del | ||
| NM_002485.4:c.1397+1del , LRG_158t1:c.1397+1del | ||
| XM_011517044.1:c.1373+1del | ||
| XM_011517045.1:c.1151+1del | ||
| XM_011517046.1:c.1395+3del | XP_011515348.1:n.1395+3del | |
| XR_928335.1:n.1533+2del | ||
| XM_017013460.1:c.518+1del | ||
| XM_017013462.2:c.518+1del | ||
| XM_024447163.1:c.1151+1del | ||
| XM_024447164.1:c.1151+1del | ||
| XM_024447165.1:c.518+1del | ||
| NM_002485.5:c.1397+1del | ||
| NM_001024688.3:c.1151+1del |