Linked Data
ClinVar Variation Id:
239647
dbSNP Id:
rs878854627
gnomAD v2:
5-236713-TGG-T
gnomAD v3:
5-236598-TGG-T
gnomAD v4:
5-236598-TGG-T
PubMed:
PMID:26556299
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.236599_236600del , CM000667.2:g.236599_236600del | GRCh38 |
| NC_000005.9:g.236714_236715del , CM000667.1:g.236714_236715del | GRCh37 |
| NC_000005.8:g.289714_289715del | NCBI36 |
| NG_012339.1:g.23359_23360del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264932.11:c.1432_1432+1del | ||
| ENST00000651543.1:c.*165_*165+1del | ||
| ENST00000264932.10:c.1432_1432+1del | ||
| ENST00000504309.5:c.1432_1432+1del | ||
| ENST00000505555.5:n.1472_1472+1del | ||
| ENST00000510361.5:c.1288_1288+1del | ||
| ENST00000511810.5:n.2179_2179+1del | ||
| ENST00000514027.5:n.1387_1387+1del | ||
| ENST00000515752.5:n.1018_1018+1del | ||
| ENST00000515815.5:c.87_87+1del | ||
| ENST00000617470.4:c.997_997+1del | ||
| NM_001294332.1:c.1288_1288+1del | ||
| NM_004168.3:c.1432_1432+1del | ||
| XM_005248331.2:c.1432_1432+1del | ||
| XM_011514072.1:c.1432_1432+1del | ||
| XM_011514073.1:c.1432_1432+1del | ||
| XR_925638.1:n.1565_1565+1del | ||
| NM_001330758.1:c.1432_1432+1del | ||
| XM_011514072.2:c.1432_1432+1del | ||
| XM_011514073.2:c.1432_1432+1del | ||
| XM_017009685.2:c.1432_1432+1del | ||
| XM_024446143.1:c.1288_1288+1del | ||
| XR_002956167.1:n.1479_1479+1del | ||
| NM_004168.4:c.1432_1432+1del | ||
| NM_001294332.2:c.1288_1288+1del | ||
| NM_001330758.2:c.1432_1432+1del |