Linked Data
dbSNP Id:
rs1906747433
gnomAD v3:
17-30221413-GGGTCACAGCCCACCCCA-G
gnomAD v4:
17-30221413-GGGTCACAGCCCACCCCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30221429_30221445del , CM000679.2:g.30221429_30221445del | GRCh38 |
| NC_000017.10:g.28548447_28548463del , CM000679.1:g.28548447_28548463del | GRCh37 |
| NC_000017.9:g.25572573_25572589del | NCBI36 |
| NG_011747.2:g.19507_19523del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650711.1:c.343+186_343+202del MANE Select | ENSP00000498537.1:n.343+186_343+202del | |
| ENST00000261707.7:c.343+186_343+202del | ENSP00000261707.3:n.343+186_343+202del | |
| ENST00000394821.2:c.343+186_343+202del | ENSP00000378298.2:n.343+186_343+202del | |
| ENST00000401766.6:c.343+186_343+202del | ENSP00000385822.2:n.343+186_343+202del | |
| NM_001045.5:c.343+186_343+202del | NP_001036.1:n.343+186_343+202del | |
| NM_001045.6:c.343+186_343+202del MANE Select | NP_001036.1:n.343+186_343+202del |