Linked Data
ClinVar Variation Id:
337390
ClinVar RCV Id:
RCV000299185
dbSNP Id:
rs565147927
gnomAD v2:
2-88856378-AAAACAT-A
gnomAD v3:
2-88556860-AAAACAT-A
gnomAD v4:
2-88556860-AAAACAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88556868_88556873del , CM000664.2:g.88556868_88556873del | GRCh38 |
| NC_000002.11:g.88856386_88856391del , CM000664.1:g.88856386_88856391del | GRCh37 |
| NC_000002.10:g.88637501_88637506del | NCBI36 |
| NG_016424.1:g.75711_75716del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652666.2:n.3491_3496del | ||
| ENST00000682103.1:c.1716_1721del | ||
| ENST00000682276.1:n.3666_3671del | ||
| ENST00000682468.1:n.1759_1764del | ||
| ENST00000682603.1:c.1288_1293del | ||
| ENST00000682952.1:n.3860_3865del | ||
| ENST00000683663.1:n.4207_4212del | ||
| ENST00000684455.1:c.3434_3439del | ||
| ENST00000684642.1:c.3450_3455del | ENSP00000507355.1:n.3450_3455del | |
| ENST00000684740.1:n.4399_4404del | ||
| ENST00000303236.9:c.*870_*875del MANE Select | ENSP00000307235.3:n.*870_*875del | |
| ENST00000652736.1:n.4097_4102del | ||
| ENST00000303236.7:c.*870_*875del | ENSP00000307235.3:n.*870_*875del | |
| ENST00000419748.5:c.*870_*875del | ENSP00000408325.1:n.*870_*875del | |
| NM_001313915.1:c.*870_*875del | NP_001300844.1:n.*870_*875del | |
| NM_004836.5:c.*870_*875del | NP_004827.4:n.*870_*875del | |
| NM_004836.6:c.*870_*875del | NP_004827.4:n.*870_*875del | |
| NR_110236.1:n.650+16689_650+16694del | ||
| XM_005264649.3:c.*870_*875del | XP_005264706.1:n.*870_*875del | |
| XM_017005376.2:c.*870_*875del | XP_016860865.1:n.*870_*875del | |
| NM_004836.7:c.*870_*875del MANE Select | NP_004827.4:n.*870_*875del | |
| NM_001313915.2:c.*870_*875del | NP_001300844.1:n.*870_*875del |