Linked Data
ClinVar Variation Id:
327636
ClinVar RCV Id:
RCV000281552
dbSNP Id:
rs5825337
gnomAD v2:
18-57100501-AT-A
gnomAD v3:
18-59433269-AT-A
gnomAD v4:
18-59433269-AT-A
MyVariant Identifiers:
chr18:g.57100503del (hg19)
chr18:g.57100502del (hg19)
chr18:g.59433271del (hg38)
chr18:g.59433270del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59433282del , CM000680.2:g.59433282del | GRCh38 |
| NC_000018.9:g.57100514del , CM000680.1:g.57100514del | GRCh37 |
| NC_000018.8:g.55251494del | NCBI36 |
| NG_016990.1:g.269143del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650467.2:c.*2638del | ENSP00000496897.2:n.*2638del | |
| ENST00000439986.9:c.*2638del MANE Select | ENSP00000404464.2:n.*2638del | |
| ENST00000649564.1:c.*2638del | ENSP00000497183.1:n.*2638del | |
| ENST00000398179.3:c.3649del | ENSP00000381241.3:n.3649del | |
| ENST00000439986.8:c.*2638del | ENSP00000404464.2:n.*2638del | |
| NM_133459.3:c.*2638del | NP_597716.1:n.*2638del | |
| XM_005266648.2:c.*2638del | XP_005266705.1:n.*2638del | |
| NM_133459.4:c.*2638del MANE Select | NP_597716.1:n.*2638del | |
| XM_024451091.1:c.*2638del | XP_024306859.1:n.*2638del |