Linked Data
ClinVar Variation Id:
422733
ClinVar RCV Id:
RCV000482916
dbSNP Id:
rs1064795963
gnomAD v3:
18-31091028-CT-C
gnomAD v4:
18-31091028-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31091029del , CM000680.2:g.31091029del | GRCh38 |
| NC_000018.9:g.28670992del , CM000680.1:g.28670992del | GRCh37 |
| NC_000018.8:g.26924990del | NCBI36 |
| NG_008208.2:g.16397del , LRG_400:g.16397del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682357.1:c.44del | ENSP00000507826.1:p.Gln15ArgfsTer16 | |
| ENST00000251081.8:c.473del | ENSP00000251081.6:p.Gln158ArgfsTer16 | |
| ENST00000280904.11:c.473del MANE Select | ENSP00000280904.6:p.Gln158ArgfsTer16 | |
| ENST00000648081.1:c.44del | ENSP00000497441.1:p.Gln15ArgfsTer16 | |
| ENST00000251081.6:c.473del | ENSP00000251081.6:p.Gln158ArgfsTer16 | |
| ENST00000280904.10:c.473del | ENSP00000280904.6:p.Gln158ArgfsTer16 | |
| NM_004949.4:c.473del | NP_004940.1:p.Gln158ArgfsTer16 | |
| NM_024422.4:c.473del | NP_077740.1:p.Gln158ArgfsTer16 | |
| XM_005258206.3:c.44del | XP_005258263.1:p.Gln15ArgfsTer16 | |
| XM_005258206.4:c.44del | XP_005258263.1:p.Gln15ArgfsTer16 | |
| NM_004949.5:c.473del | NP_004940.1:p.Gln158ArgfsTer16 | |
| NM_024422.6:c.473del MANE Select | NP_077740.1:p.Gln158ArgfsTer16 |