Linked Data
gnomAD v4:
4-186197566-GTAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186197568_186197570del , CM000666.2:g.186197568_186197570del | GRCh38 |
| NC_000004.11:g.187118722_187118724del , CM000666.1:g.187118722_187118724del | GRCh37 |
| NC_000004.10:g.187355716_187355718del | NCBI36 |
| NG_007965.1:g.11049_11051del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.640_642del MANE Select | ENSP00000368079.4:p.Asn214del | |
| ENST00000378802.4:c.640_642del | ENSP00000368079.4:p.Asn214del | |
| ENST00000507209.5:n.1481_1483del | ||
| NM_207352.3:c.640_642del | NP_997235.3:p.Asn214del | |
| XM_005262935.2:c.640_642del | XP_005262992.1:p.Asn214del | |
| XM_006714184.2:c.244_246del | XP_006714247.1:p.Asn82del | |
| XM_005262935.4:c.640_642del | XP_005262992.1:p.Asn214del | |
| XM_017008037.1:c.244_246del | XP_016863526.1:p.Asn82del | |
| NM_207352.4:c.640_642del MANE Select | NP_997235.3:p.Asn214del |