Linked Data
ClinVar Variation Id:
2780558
ClinVar RCV Id:
RCV003614280
dbSNP Id:
rs1268796749
gnomAD v2:
8-30924541-AT-A
gnomAD v4:
8-31067025-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31067028del , CM000670.2:g.31067028del | GRCh38 |
| NC_000008.10:g.30924544del , CM000670.1:g.30924544del | GRCh37 |
| NC_000008.9:g.31044086del | NCBI36 |
| NG_008870.1:g.38767del , LRG_524:g.38767del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.505-5del MANE Select | ENSP00000298139.5:n.505-5del | |
| ENST00000650667.1:c.*119-5del | ENSP00000498593.1:n.*119-5del | |
| ENST00000298139.5:c.505-5del | ENSP00000298139.5:n.505-5del | |
| NM_000553.4:c.505-5del , LRG_524t1:c.505-5del | NP_000544.2:n.505-5del | |
| XM_011544639.1:c.505-5del | XP_011542941.1:n.505-5del | |
| XR_949470.1:n.778-5del | ||
| XR_949471.1:n.778-5del | ||
| XR_949472.1:n.778-5del | ||
| NM_000553.5:c.505-5del | NP_000544.2:n.505-5del | |
| XM_011544639.3:c.505-5del | XP_011542941.1:n.505-5del | |
| XM_024447265.1:c.295-5del | XP_024303033.1:n.295-5del | |
| XR_949470.3:n.806-5del | ||
| XR_949471.3:n.806-5del | ||
| XR_949472.3:n.806-5del | ||
| NM_000553.6:c.505-5del MANE Select | NP_000544.2:n.505-5del |