Linked Data
gnomAD v4:
4-186197083-TTAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186197084_186197086del , CM000666.2:g.186197084_186197086del | GRCh38 |
| NC_000004.11:g.187118238_187118240del , CM000666.1:g.187118238_187118240del | GRCh37 |
| NC_000004.10:g.187355232_187355234del | NCBI36 |
| NG_007965.1:g.10565_10567del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.558_560del MANE Select | ENSP00000368079.4:p.Asn187del | |
| ENST00000378802.4:c.558_560del | ENSP00000368079.4:p.Asn187del | |
| ENST00000507209.5:n.997_999del | ||
| NM_207352.3:c.558_560del | NP_997235.3:p.Asn187del | |
| XM_005262935.2:c.558_560del | XP_005262992.1:p.Asn187del | |
| XM_006714184.2:c.162_164del | XP_006714247.1:p.Asn55del | |
| XM_005262935.4:c.558_560del | XP_005262992.1:p.Asn187del | |
| XM_017008037.1:c.162_164del | XP_016863526.1:p.Asn55del | |
| NM_207352.4:c.558_560del MANE Select | NP_997235.3:p.Asn187del |