Linked Data
ClinVar Variation Id:
326380
ClinVar RCV Id:
RCV000334094
dbSNP Id:
rs796836744
gnomAD v2:
18-28647216-TA-T
gnomAD v3:
18-31067250-TA-T
gnomAD v4:
18-31067250-TA-T
MyVariant Identifiers:
chr18:g.28647218del (hg19)
chr18:g.28647217del (hg19)
chr18:g.31067252del (hg38)
chr18:g.31067251del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31067266del , CM000680.2:g.31067266del | GRCh38 |
| NC_000018.9:g.28647232del , CM000680.1:g.28647232del | GRCh37 |
| NC_000018.8:g.26901230del | NCBI36 |
| NG_008208.2:g.40175del , LRG_400:g.40175del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682357.1:c.*764del | ENSP00000507826.1:n.*764del | |
| ENST00000251081.8:c.*972del | ENSP00000251081.6:n.*972del | |
| ENST00000280904.11:c.*764del MANE Select | ENSP00000280904.6:n.*764del | |
| ENST00000648081.1:c.*764del | ENSP00000497441.1:n.*764del | |
| ENST00000251081.6:c.*972del | ENSP00000251081.6:n.*972del | |
| ENST00000280904.10:c.*764del | ENSP00000280904.6:n.*764del | |
| NM_004949.4:c.*972del | NP_004940.1:n.*972del | |
| NM_024422.4:c.*764del | NP_077740.1:n.*764del | |
| XM_005258206.3:c.*764del | XP_005258263.1:n.*764del | |
| XM_005258206.4:c.*764del | XP_005258263.1:n.*764del | |
| NM_004949.5:c.*972del | NP_004940.1:n.*972del | |
| NM_024422.6:c.*764del MANE Select | NP_077740.1:n.*764del |