Linked Data
ClinVar Variation Id:
294349
ClinVar RCV Id:
RCV000321565
dbSNP Id:
rs11311839
gnomAD v2:
1-19198681-GC-G
gnomAD v3:
1-18872187-GC-G
gnomAD v4:
1-18872187-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.18872193del , CM000663.2:g.18872193del | GRCh38 |
| NC_000001.10:g.19198687del , CM000663.1:g.19198687del | GRCh37 |
| NC_000001.9:g.19071274del | NCBI36 |
| NG_012283.1:g.35612del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375341.8:c.*657del MANE Select | ENSP00000364490.3:n.*657del | |
| ENST00000290597.9:c.*42-398del | ENSP00000290597.5:n.*42-398del | |
| ENST00000375341.7:c.*657del | ENSP00000364490.3:n.*657del | |
| ENST00000494072.3:c.2631+2275del | ||
| ENST00000538839.5:c.*657del | ENSP00000446071.1:n.*657del | |
| NM_001161504.1:c.*657del | NP_001154976.1:n.*657del | |
| NM_003748.3:c.*657del | NP_003739.2:n.*657del | |
| NM_170726.2:c.*42-398del | NP_733844.1:n.*42-398del | |
| XM_011542352.1:c.*657del | XP_011540654.1:n.*657del | |
| XR_946786.1:n.2218del | ||
| NM_001319218.1:c.*657del | NP_001306147.1:n.*657del | |
| XR_001737510.1:n.2065del | ||
| NM_003748.4:c.*657del MANE Select | NP_003739.2:n.*657del | |
| NM_170726.3:c.*42-398del | NP_733844.1:n.*42-398del | |
| NM_001161504.2:c.*657del | NP_001154976.1:n.*657del | |
| NM_001319218.2:c.*657del | NP_001306147.1:n.*657del |