Linked Data
ClinVar Variation Id:
1457789
ClinVar RCV Id:
RCV001972714
dbSNP Id:
rs779119416
ExAC:
2:26705383 TG / T
gnomAD v2:
2-26705383-TG-T
gnomAD v3:
2-26482515-TG-T
gnomAD v4:
2-26482515-TG-T
COSMIC:
COSM3734650
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26482521del , CM000664.2:g.26482521del | GRCh38 |
| NC_000002.11:g.26705389del , CM000664.1:g.26705389del | GRCh37 |
| NC_000002.10:g.26558893del | NCBI36 |
| NG_009937.1:g.81183del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.1469del MANE Select | ENSP00000272371.2:p.Pro490HisfsTer6 | |
| ENST00000272371.6:c.1469del | ENSP00000272371.2:p.Pro490HisfsTer6 | |
| ENST00000403946.7:c.1469del | ENSP00000385255.3:p.Pro490HisfsTer6 | |
| NM_001287489.1:c.1469del | NP_001274418.1:p.Pro490HisfsTer6 | |
| NM_194248.2:c.1469del | NP_919224.1:p.Pro490HisfsTer6 | |
| XM_005264644.2:c.1514del | XP_005264701.1:p.Pro505HisfsTer6 | |
| XM_011533185.1:c.1514del | XP_011531487.1:p.Pro505HisfsTer6 | |
| XM_017005338.1:c.1469del | XP_016860827.1:p.Pro490HisfsTer6 | |
| NM_001287489.2:c.1469del | NP_001274418.1:p.Pro490HisfsTer6 | |
| NM_194248.3:c.1469del MANE Select | NP_919224.1:p.Pro490HisfsTer6 |