Linked Data
dbSNP Id:
rs746228424
ExAC:
1:115226961 CA / C
gnomAD v2:
1-115226961-CA-C
gnomAD v3:
1-114684340-CA-C
gnomAD v4:
1-114684340-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114684342del , CM000663.2:g.114684342del | GRCh38 |
| NC_000001.10:g.115226963del , CM000663.1:g.115226963del | GRCh37 |
| NC_000001.9:g.115028486del | NCBI36 |
| NG_008012.1:g.16215del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.393del | ENSP00000358551.4:p.Ile131MetfsTer? | |
| ENST00000520113.7:c.405del MANE Select | ENSP00000430075.3:p.Ile135MetfsTer? | |
| ENST00000637080.1:c.408del | ENSP00000489753.1:p.Ile136MetfsTer? | |
| ENST00000639077.1:n.70del | ||
| ENST00000369538.3:c.492del | ENSP00000358551.3:p.Ile164MetfsTer? | |
| ENST00000485564.3:n.279del | ||
| ENST00000520113.6:c.504del | ENSP00000430075.2:p.Ile168MetfsTer? | |
| NM_000036.2:c.504del | NP_000027.2:p.Ile168MetfsTer? | |
| NM_001172626.1:c.492del | NP_001166097.1:p.Ile164MetfsTer? | |
| NM_000036.3:c.405del MANE Select | NP_000027.3:p.Ile135MetfsTer? | |
| NM_001172626.2:c.393del | NP_001166097.2:p.Ile131MetfsTer? |