Linked Data
ClinVar Variation Id:
1474920
ClinVar RCV Id:
RCV001973736
dbSNP Id:
rs1230461981
gnomAD v3:
5-161882546-GT-G
gnomAD v4:
5-161882546-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.161882549del , CM000667.2:g.161882549del | GRCh38 |
| NC_000005.9:g.161309555del , CM000667.1:g.161309555del | GRCh37 |
| NC_000005.8:g.161242133del | NCBI36 |
| NG_011548.1:g.40359del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393943.10:c.560-9del MANE Select | ENSP00000377517.4:n.560-9del | |
| ENST00000635880.1:c.560-9del | ENSP00000489738.1:n.560-9del | |
| ENST00000635916.2:n.2152del | ||
| ENST00000636340.1:c.*409-9del | ENSP00000490002.1:n.*409-9del | |
| ENST00000636408.1:n.364-9del | ||
| ENST00000636573.1:c.560-9del | ENSP00000490320.1:n.560-9del | |
| ENST00000637044.1:c.*334-9del | ENSP00000490684.1:n.*334-9del | |
| ENST00000637827.1:c.560-9del | ENSP00000490804.1:n.560-9del | |
| ENST00000638112.1:c.560-9del | ENSP00000489839.1:n.560-9del | |
| ENST00000638159.1:c.605-9del | ENSP00000490360.1:n.605-9del | |
| ENST00000023897.10:c.560-9del | ENSP00000023897.6:n.560-9del | |
| ENST00000393943.9:c.560-9del | ENSP00000377517.4:n.560-9del | |
| ENST00000428797.7:c.560-9del | ENSP00000393097.2:n.560-9del | |
| ENST00000437025.6:c.560-9del | ENSP00000415441.2:n.560-9del | |
| ENST00000519542.1:n.324-9del | ||
| ENST00000634335.1:c.560-9del | ENSP00000489434.1:n.560-9del | |
| NM_000806.5:c.560-9del | NP_000797.2:n.560-9del | |
| NM_001127643.1:c.560-9del | NP_001121115.1:n.560-9del | |
| NM_001127644.1:c.560-9del | NP_001121116.1:n.560-9del | |
| NM_001127645.1:c.560-9del | NP_001121117.1:n.560-9del | |
| NM_001127648.1:c.560-9del | NP_001121120.1:n.560-9del | |
| NM_001127644.2:c.560-9del MANE Select | NP_001121116.1:n.560-9del | |
| NM_001127643.2:c.560-9del | NP_001121115.1:n.560-9del | |
| NM_001127645.2:c.560-9del | NP_001121117.1:n.560-9del | |
| NM_001127648.2:c.560-9del | NP_001121120.1:n.560-9del |