Linked Data
ClinVar Variation Id:
1456030
ClinVar RCV Id:
RCV001950938
dbSNP Id:
rs1762806344
gnomAD v4:
6-26092691-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26092694del , CM000668.2:g.26092694del | GRCh38 |
| NC_000006.11:g.26092922del , CM000668.1:g.26092922del | GRCh37 |
| NC_000006.10:g.26200901del | NCBI36 |
| NG_008720.2:g.10414del , LRG_748:g.10414del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485729.2:c.626del (HFE) | ENSP00000417534.2:p.Leu209TrpfsTer2 | |
| ENST00000707188.1:c.391-1658del (H2BC4) | ENSP00000516775.1:n.391-1658del | |
| ENST00000357618.10:c.626del (HFE) MANE Select | ENSP00000417404.1:p.Leu209TrpfsTer2 | |
| ENST00000309234.10:c.626del (HFE) | ENSP00000311698.6:p.Leu209TrpfsTer2 | |
| ENST00000317896.11:c.350del (HFE) | ENSP00000313776.7:p.Leu117TrpfsTer2 | |
| ENST00000336625.12:c.341-33del (HFE) | ENSP00000337819.8:n.341-33del | |
| ENST00000349999.8:c.362del (HFE) | ENSP00000259699.6:p.Leu121TrpfsTer2 | |
| ENST00000352392.8:c.77-425del (HFE) | ENSP00000315936.4:n.77-425del | |
| ENST00000353147.9:c.86del (HFE) | ENSP00000312342.5:p.Leu29TrpfsTer2 | |
| ENST00000357618.9:c.626del (HFE) | ENSP00000417404.1:p.Leu209TrpfsTer2 | |
| ENST00000397022.7:c.557del (HFE) | ENSP00000380217.3:p.Leu186TrpfsTer2 | |
| ENST00000461397.5:c.617-33del (HFE) | ENSP00000420802.1:n.617-33del | |
| ENST00000470149.5:c.650-33del (HFE) | ENSP00000419725.1:n.650-33del | |
| ENST00000483782.1:n.957del (HFE) | ||
| ENST00000486147.1:n.469del (HFE) | ||
| ENST00000488199.5:c.353-33del (HFE) | ENSP00000420559.1:n.353-33del | |
| ENST00000629531.1:c.132+31081del (H2BC3) | ENSP00000486472.1:n.132+31081del | |
| NM_000410.3:c.626del , LRG_748t1:c.626del (HFE) | NP_000401.1:p.Leu209TrpfsTer2 | |
| NM_001300749.1:c.626del (HFE) | NP_001287678.1:p.Leu209TrpfsTer2 | |
| NM_139003.2:c.341-33del (HFE) | NP_620572.1:n.341-33del | |
| NM_139004.2:c.350del (HFE) | NP_620573.1:p.Leu117TrpfsTer2 | |
| NM_139006.2:c.617-33del (HFE) | NP_620575.1:n.617-33del | |
| NM_139007.2:c.362del (HFE) | NP_620576.1:p.Leu121TrpfsTer2 | |
| NM_139008.2:c.353-33del (HFE) | NP_620577.1:n.353-33del | |
| NM_139009.2:c.557del (HFE) | NP_620578.1:p.Leu186TrpfsTer2 | |
| NM_139010.2:c.86del (HFE) | NP_620579.1:p.Leu29TrpfsTer2 | |
| NM_139011.2:c.77-425del (HFE) | NP_620580.1:n.77-425del | |
| XM_011514543.1:c.626del (HFE) | XP_011512845.1:p.Leu209TrpfsTer2 | |
| XM_011514544.1:c.650-33del (HFE) | XP_011512846.1:n.650-33del | |
| XR_241893.2:n.748del (HFE) | ||
| XM_011514543.3:c.626del (HFE) | XP_011512845.1:p.Leu209TrpfsTer2 | |
| XR_241893.4:n.720del (HFE) | ||
| NM_001300749.2:c.626del (HFE) | NP_001287678.1:p.Leu209TrpfsTer2 | |
| NM_139003.3:c.341-33del (HFE) | NP_620572.1:n.341-33del | |
| NM_139004.3:c.350del (HFE) | NP_620573.1:p.Leu117TrpfsTer2 | |
| NM_139006.3:c.617-33del (HFE) | NP_620575.1:n.617-33del | |
| NM_139007.3:c.362del (HFE) | NP_620576.1:p.Leu121TrpfsTer2 | |
| NM_139008.3:c.353-33del (HFE) | NP_620577.1:n.353-33del | |
| NM_139009.3:c.557del (HFE) | NP_620578.1:p.Leu186TrpfsTer2 | |
| NM_139010.3:c.86del (HFE) | NP_620579.1:p.Leu29TrpfsTer2 | |
| NM_139011.3:c.77-425del (HFE) | NP_620580.1:n.77-425del | |
| NM_000410.4:c.626del (HFE) MANE Select | NP_000401.1:p.Leu209TrpfsTer2 | |
| NM_001384164.1:c.626del (HFE) | NP_001371093.1:p.Leu209TrpfsTer2 |