Linked Data
ClinVar Variation Id:
46204
ClinVar RCV Id:
RCV000039448
RCV001781362
RCV000769504
RCV003338394
RCV003398606
RCV003996450
RCV001824284
dbSNP Id:
rs397517408
gnomAD v4:
18-31093616-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31093617del , CM000680.2:g.31093617del | GRCh38 |
| NC_000018.9:g.28673580del , CM000680.1:g.28673580del | GRCh37 |
| NC_000018.8:g.26927578del | NCBI36 |
| NG_008208.2:g.13809del , LRG_400:g.13809del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682357.1:c.-334del | ENSP00000507826.1:n.-334del | |
| ENST00000251081.8:c.96del | ENSP00000251081.6:p.Cys32Ter | |
| ENST00000280904.11:c.96del MANE Select | ENSP00000280904.6:p.Cys32Ter | |
| ENST00000648081.1:c.-371del | ENSP00000497441.1:n.-371del | |
| ENST00000251081.6:c.96del | ENSP00000251081.6:p.Cys32Ter | |
| ENST00000280904.10:c.96del | ENSP00000280904.6:p.Cys32Ter | |
| NM_004949.4:c.96del | NP_004940.1:p.Cys32Ter | |
| NM_024422.4:c.96del | NP_077740.1:p.Cys32Ter | |
| XM_005258206.3:c.-334del | XP_005258263.1:n.-334del | |
| XM_005258206.4:c.-334del | XP_005258263.1:n.-334del | |
| NM_004949.5:c.96del | NP_004940.1:p.Cys32Ter | |
| NM_024422.6:c.96del MANE Select | NP_077740.1:p.Cys32Ter |