Linked Data
ClinVar Variation Id:
327658
ClinVar RCV Id:
RCV000386751
dbSNP Id:
rs373652074
gnomAD v2:
18-57101123-CTTTT-C
gnomAD v3:
18-59433891-CTTTT-C
gnomAD v4:
18-59433891-CTTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59433913_59433916del , CM000680.2:g.59433913_59433916del | GRCh38 |
| NC_000018.9:g.57101145_57101148del , CM000680.1:g.57101145_57101148del | GRCh37 |
| NC_000018.8:g.55252125_55252128del | NCBI36 |
| NG_016990.1:g.268518_268521del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650467.2:c.*2013_*2016del | ENSP00000496897.2:n.*2013_*2016del | |
| ENST00000439986.9:c.*2013_*2016del MANE Select | ENSP00000404464.2:n.*2013_*2016del | |
| ENST00000649564.1:c.*2013_*2016del | ENSP00000497183.1:n.*2013_*2016del | |
| ENST00000398179.3:c.3024_3027del | ENSP00000381241.3:n.3024_3027del | |
| ENST00000439986.8:c.*2013_*2016del | ENSP00000404464.2:n.*2013_*2016del | |
| NM_133459.3:c.*2013_*2016del | NP_597716.1:n.*2013_*2016del | |
| XM_005266648.2:c.*2013_*2016del | XP_005266705.1:n.*2013_*2016del | |
| NM_133459.4:c.*2013_*2016del MANE Select | NP_597716.1:n.*2013_*2016del | |
| XM_024451091.1:c.*2013_*2016del | XP_024306859.1:n.*2013_*2016del |