Linked Data
ClinVar Variation Id:
368499
ClinVar RCV Id:
RCV000319658
dbSNP Id:
rs1057515934
gnomAD v2:
X-49858437-CTAGT-C
gnomAD v3:
X-50093780-CTAGT-C
gnomAD v4:
X-50093780-CTAGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50093783_50093786del , CM000685.2:g.50093783_50093786del | GRCh38 |
| NC_000023.10:g.49858440_49858443del , CM000685.1:g.49858440_49858443del | GRCh37 |
| NC_000023.9:g.49745180_49745183del | NCBI36 |
| NG_007159.3:g.176168_176171del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376091.8:c.*1564_*1567del MANE Select | ENSP00000365259.3:n.*1564_*1567del | |
| ENST00000376088.7:c.*1564_*1567del | ENSP00000365256.3:n.*1564_*1567del | |
| NM_000084.4:c.*1564_*1567del | NP_000075.1:n.*1564_*1567del | |
| NM_001127898.3:c.*1564_*1567del | NP_001121370.1:n.*1564_*1567del | |
| NM_001127899.3:c.*1564_*1567del | NP_001121371.1:n.*1564_*1567del | |
| NM_001282163.1:c.*1564_*1567del | NP_001269092.1:n.*1564_*1567del | |
| XM_011543888.1:c.*1564_*1567del | XP_011542190.1:n.*1564_*1567del | |
| XM_011543889.1:c.*1564_*1567del | XP_011542191.1:n.*1564_*1567del | |
| XM_017029257.1:c.*1564_*1567del | XP_016884746.1:n.*1564_*1567del | |
| XM_017029258.1:c.*1564_*1567del | XP_016884747.1:n.*1564_*1567del | |
| NM_001127898.4:c.*1564_*1567del MANE Select | NP_001121370.1:n.*1564_*1567del | |
| NM_000084.5:c.*1564_*1567del | NP_000075.1:n.*1564_*1567del | |
| NM_001127899.4:c.*1564_*1567del | NP_001121371.1:n.*1564_*1567del | |
| NM_001282163.2:c.*1564_*1567del | NP_001269092.1:n.*1564_*1567del |