Linked Data
dbSNP Id:
rs1188454499
gnomAD v2:
4-178362930-TA-T
gnomAD v3:
4-177441776-TA-T
gnomAD v4:
4-177441776-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177441779del , CM000666.2:g.177441779del | GRCh38 |
| NC_000004.11:g.178362933del , CM000666.1:g.178362933del | GRCh37 |
| NC_000004.10:g.178599927del | NCBI36 |
| NG_011845.2:g.5727del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.127+472del MANE Select | ENSP00000264595.2:n.127+472del | |
| ENST00000264595.6:c.127+472del | ENSP00000264595.2:n.127+472del | |
| ENST00000506853.5:n.161+472del | ||
| ENST00000510955.5:n.161+472del | ||
| ENST00000511231.1:n.161+472del | ||
| NM_000027.3:c.127+472del | NP_000018.2:n.127+472del | |
| NM_001171988.1:c.127+472del | NP_001165459.1:n.127+472del | |
| NR_033655.1:n.255+472del | ||
| XM_006714123.2:c.127+472del | XP_006714186.1:n.127+472del | |
| XR_001741155.2:n.221+472del | ||
| NM_000027.4:c.127+472del MANE Select | NP_000018.2:n.127+472del | |
| NM_001171988.2:c.127+472del | NP_001165459.1:n.127+472del | |
| NR_033655.2:n.189+472del |