Linked Data
ClinVar Variation Id:
422934
ClinVar RCV Id:
RCV000484399
dbSNP Id:
rs1064796105
gnomAD v4:
1-152305163-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152305165del , CM000663.2:g.152305165del | GRCh38 |
| NC_000001.10:g.152277641del , CM000663.1:g.152277641del | GRCh37 |
| NC_000001.9:g.150544265del | NCBI36 |
| NG_016190.1:g.25040del , LRG_1028:g.25040del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368799.2:c.9722del MANE Select | ENSP00000357789.1:p.Gly3241AspfsTer? | |
| ENST00000368799.1:c.9722del | ENSP00000357789.1:p.Gly3241AspfsTer? | |
| NM_002016.1:c.9722del , LRG_1028t1:c.9722del | NP_002007.1:p.Gly3241AspfsTer? | |
| XM_011509329.1:c.9108+614del | XP_011507631.1:n.9108+614del | |
| NM_002016.2:c.9722del MANE Select | NP_002007.1:p.Gly3241AspfsTer? |