Identifiers and link-outs to other resources
ClinVar Variation Id:
371238
ClinVar RCV Id:
RCV000411048
dbSNP Id:
rs1057517116
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186276222_186276233del , CM000666.2:g.186276222_186276233del | GRCh38 |
| NC_000004.11:g.187197376_187197387del , CM000666.1:g.187197376_187197387del | GRCh37 |
| NC_000004.10:g.187434370_187434381del | NCBI36 |
| NG_008051.1:g.15259_15270del , LRG_583:g.15259_15270del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_000128.3:c.596-9_598del , LRG_583t1:c.596-9_598del | ||
| XM_005262821.2:c.596-9_598del | ||
| XM_005262822.2:c.596-9_598del | ||
| XM_005262823.2:c.485+1947_485+1958del | XP_005262880.1:p.= | |
| XM_005262824.1:c.596-9_598del | ||
| XM_006714137.1:c.596-9_598del | ||
| XR_938706.1:n.948-9_950del | ||
| XR_938707.1:n.948-9_950del | ||
| XM_005262821.4:c.596-9_598del | ||
| XM_005262822.4:c.596-9_598del | ||
| XM_005262823.4:c.485+1947_485+1958del | XP_005262880.1:p.= | |
| XM_006714137.3:c.596-9_598del | ||
| XM_017007884.2:c.596-9_598del | ||
| XM_017007885.2:c.596-9_598del | ||
| XM_017007886.2:c.596-9_598del | ||
| XR_001741172.2:n.929-9_931del | ||
| NM_000128.4:c.596-9_598del VV MANE Preferred | ||
| ENST00000264692.8:c.434-9_436del | ||
| ENST00000403665.6:c.596-9_598del | ||
| ENST00000452239.1:n.43-9_45del |