Linked Data
dbSNP Id:
rs765570735
ExAC:
4:178363557 GA / G
gnomAD v2:
4-178363557-GA-G
gnomAD v3:
4-177442403-GA-G
gnomAD v4:
4-177442403-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442407del , CM000666.2:g.177442407del | GRCh38 |
| NC_000004.11:g.178363561del , CM000666.1:g.178363561del | GRCh37 |
| NC_000004.10:g.178600555del | NCBI36 |
| NG_011845.2:g.5100del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.-29del MANE Select | ENSP00000264595.2:n.-29del | |
| ENST00000264595.6:c.-29del | ENSP00000264595.2:n.-29del | |
| ENST00000506853.5:n.6del | ||
| ENST00000510955.5:n.6del | ||
| ENST00000511231.1:n.6del | ||
| NM_000027.3:c.-29del | NP_000018.2:n.-29del | |
| NM_001171988.1:c.-29del | NP_001165459.1:n.-29del | |
| NR_033655.1:n.100del | ||
| XM_006714123.2:c.-29del | XP_006714186.1:n.-29del | |
| XR_001741155.2:n.66del | ||
| NM_000027.4:c.-29del MANE Select | NP_000018.2:n.-29del | |
| NM_001171988.2:c.-29del | NP_001165459.1:n.-29del | |
| NR_033655.2:n.34del |