Linked Data
ClinVar Variation Id:
407079
dbSNP Id:
rs765804978
ExAC:
6:26091746 ACC / A
gnomAD v2:
6-26091746-ACC-A
gnomAD v4:
6-26091518-ACC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26091519_26091520del , CM000668.2:g.26091519_26091520del | GRCh38 |
| NC_000006.11:g.26091747_26091748del , CM000668.1:g.26091747_26091748del | GRCh37 |
| NC_000006.10:g.26199726_26199727del | NCBI36 |
| NG_008720.2:g.9239_9240del , LRG_748:g.9239_9240del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000485729.2:c.546_547del (HFE) | ENSP00000417534.2:p.Leu183GlyfsTer? | |
| ENST00000707188.1:c.391-486_391-485del (H2BC4) | ENSP00000516775.1:n.391-486_391-485del | |
| ENST00000357618.10:c.546_547del (HFE) MANE Select | ENSP00000417404.1:p.Leu183GlyfsTer? | |
| ENST00000309234.10:c.546_547del (HFE) | ENSP00000311698.6:p.Leu183GlyfsTer? | |
| ENST00000317896.11:c.340+415_340+416del (HFE) | ENSP00000313776.7:n.340+415_340+416del | |
| ENST00000336625.12:c.340+415_340+416del (HFE) | ENSP00000337819.8:n.340+415_340+416del | |
| ENST00000349999.8:c.282_283del (HFE) | ENSP00000259699.6:p.Leu95GlyfsTer? | |
| ENST00000352392.8:c.77-1600_77-1599del (HFE) | ENSP00000315936.4:n.77-1600_77-1599del | |
| ENST00000353147.9:c.77-1166_77-1165del (HFE) | ENSP00000312342.5:n.77-1166_77-1165del | |
| ENST00000357618.9:c.546_547del (HFE) | ENSP00000417404.1:p.Leu183GlyfsTer? | |
| ENST00000397022.7:c.477_478del (HFE) | ENSP00000380217.3:p.Leu160GlyfsTer? | |
| ENST00000461397.5:c.546_547del (HFE) | ENSP00000420802.1:p.Leu183GlyfsTer? | |
| ENST00000470149.5:c.546_547del (HFE) | ENSP00000419725.1:p.Leu183GlyfsTer26 | |
| ENST00000483782.1:n.877_878del (HFE) | ||
| ENST00000486147.1:n.383+415_383+416del (HFE) | ||
| ENST00000488199.5:c.282_283del (HFE) | ENSP00000420559.1:p.Leu95GlyfsTer? | |
| ENST00000629531.1:c.132+32253_132+32254del (H2BC3) | ENSP00000486472.1:n.132+32253_132+32254de... | |
| NM_000410.3:c.546_547del , LRG_748t1:c.546_547del (HFE) | NP_000401.1:p.Leu183GlyfsTer? | |
| NM_001300749.1:c.546_547del (HFE) | NP_001287678.1:p.Leu183GlyfsTer? | |
| NM_139003.2:c.340+415_340+416del (HFE) | NP_620572.1:n.340+415_340+416del | |
| NM_139004.2:c.340+415_340+416del (HFE) | NP_620573.1:n.340+415_340+416del | |
| NM_139006.2:c.546_547del (HFE) | NP_620575.1:p.Leu183GlyfsTer? | |
| NM_139007.2:c.282_283del (HFE) | NP_620576.1:p.Leu95GlyfsTer? | |
| NM_139008.2:c.282_283del (HFE) | NP_620577.1:p.Leu95GlyfsTer? | |
| NM_139009.2:c.477_478del (HFE) | NP_620578.1:p.Leu160GlyfsTer? | |
| NM_139010.2:c.77-1166_77-1165del (HFE) | NP_620579.1:n.77-1166_77-1165del | |
| NM_139011.2:c.77-1600_77-1599del (HFE) | NP_620580.1:n.77-1600_77-1599del | |
| XM_011514543.1:c.546_547del (HFE) | XP_011512845.1:p.Leu183GlyfsTer? | |
| XM_011514544.1:c.546_547del (HFE) | XP_011512846.1:p.Leu183GlyfsTer26 | |
| XR_241893.2:n.668_669del (HFE) | ||
| XM_011514543.3:c.546_547del (HFE) | XP_011512845.1:p.Leu183GlyfsTer? | |
| XR_241893.4:n.640_641del (HFE) | ||
| NM_001300749.2:c.546_547del (HFE) | NP_001287678.1:p.Leu183GlyfsTer? | |
| NM_139003.3:c.340+415_340+416del (HFE) | NP_620572.1:n.340+415_340+416del | |
| NM_139004.3:c.340+415_340+416del (HFE) | NP_620573.1:n.340+415_340+416del | |
| NM_139006.3:c.546_547del (HFE) | NP_620575.1:p.Leu183GlyfsTer? | |
| NM_139007.3:c.282_283del (HFE) | NP_620576.1:p.Leu95GlyfsTer? | |
| NM_139008.3:c.282_283del (HFE) | NP_620577.1:p.Leu95GlyfsTer? | |
| NM_139009.3:c.477_478del (HFE) | NP_620578.1:p.Leu160GlyfsTer? | |
| NM_139010.3:c.77-1166_77-1165del (HFE) | NP_620579.1:n.77-1166_77-1165del | |
| NM_139011.3:c.77-1600_77-1599del (HFE) | NP_620580.1:n.77-1600_77-1599del | |
| NM_000410.4:c.546_547del (HFE) MANE Select | NP_000401.1:p.Leu183GlyfsTer? | |
| NM_001384164.1:c.546_547del (HFE) | NP_001371093.1:p.Leu183GlyfsTer? |