Linked Data
ClinVar Variation Id:
337389
ClinVar RCV Id:
RCV000406162
dbSNP Id:
rs886056411
gnomAD v2:
2-88856352-GGATT-G
gnomAD v3:
2-88556834-GGATT-G
gnomAD v4:
2-88556834-GGATT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88556839_88556842del , CM000664.2:g.88556839_88556842del | GRCh38 |
| NC_000002.11:g.88856357_88856360del , CM000664.1:g.88856357_88856360del | GRCh37 |
| NC_000002.10:g.88637472_88637475del | NCBI36 |
| NG_016424.1:g.75739_75742del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652666.2:n.3519_3522del | ||
| ENST00000682103.1:c.1744_1747del | ||
| ENST00000682276.1:n.3694_3697del | ||
| ENST00000682468.1:n.1787_1790del | ||
| ENST00000682603.1:c.1316_1319del | ||
| ENST00000682952.1:n.3888_3891del | ||
| ENST00000683663.1:n.4235_4238del | ||
| ENST00000684455.1:c.3462_3465del | ||
| ENST00000684642.1:c.3478_3481del | ENSP00000507355.1:n.3478_3481del | |
| ENST00000684740.1:n.4427_4430del | ||
| ENST00000303236.9:c.*898_*901del MANE Select | ENSP00000307235.3:n.*898_*901del | |
| ENST00000652736.1:n.4125_4128del | ||
| ENST00000303236.7:c.*898_*901del | ENSP00000307235.3:n.*898_*901del | |
| ENST00000419748.5:c.*898_*901del | ENSP00000408325.1:n.*898_*901del | |
| NM_001313915.1:c.*898_*901del | NP_001300844.1:n.*898_*901del | |
| NM_004836.5:c.*898_*901del | NP_004827.4:n.*898_*901del | |
| NM_004836.6:c.*898_*901del | NP_004827.4:n.*898_*901del | |
| NR_110236.1:n.650+16660_650+16663del | ||
| XM_005264649.3:c.*898_*901del | XP_005264706.1:n.*898_*901del | |
| XM_017005376.2:c.*898_*901del | XP_016860865.1:n.*898_*901del | |
| NM_004836.7:c.*898_*901del MANE Select | NP_004827.4:n.*898_*901del | |
| NM_001313915.2:c.*898_*901del | NP_001300844.1:n.*898_*901del |