Linked Data
ClinVar Variation Id:
1036278
ClinVar RCV Id:
RCV001339266
dbSNP Id:
rs1223257193
gnomAD v3:
9-128946078-ATG-A
gnomAD v4:
9-128946078-ATG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128946084_128946085del , CM000671.2:g.128946084_128946085del | GRCh38 |
| NC_000009.11:g.131708363_131708364del , CM000671.1:g.131708363_131708364del | GRCh37 |
| NC_000009.10:g.130748184_130748185del | NCBI36 |
| NG_017009.1:g.6654_6655del , LRG_744:g.6654_6655del | |
| NG_033111.1:g.3392_3393del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.1224_1225del MANE Select | ENSP00000361667.3:p.Ile409LeufsTer22 | |
| ENST00000372586.3:c.1224_1225del | ENSP00000361667.3:p.Ile409LeufsTer22 | |
| ENST00000482796.1:c.39-3105_39-3104del | ENSP00000417556.2:n.39-3105_39-3104del | |
| NM_014908.3:c.1224_1225del , LRG_744t1:c.1224_1225del | NP_055723.1:p.Ile409LeufsTer22 | |
| NM_014908.4:c.1224_1225del MANE Select | NP_055723.1:p.Ile409LeufsTer22 |