Linked Data
ClinVar Variation Id:
1217279
ClinVar RCV Id:
RCV001582388
dbSNP Id:
rs766992720
ExAC:
6:26092981 AACT / A
gnomAD v2:
6-26092981-AACT-A
gnomAD v4:
6-26092753-AACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26092759_26092761del , CM000668.2:g.26092759_26092761del | GRCh38 |
| NC_000006.11:g.26092987_26092989del , CM000668.1:g.26092987_26092989del | GRCh37 |
| NC_000006.10:g.26200966_26200968del | NCBI36 |
| NG_008720.2:g.10479_10481del , LRG_748:g.10479_10481del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485729.2:c.691_693del (HFE) | ENSP00000417534.2:p.Tyr231del | |
| ENST00000707188.1:c.391-1722_391-1720del (H2BC4) | ENSP00000516775.1:n.391-1722_391-1720del | |
| ENST00000357618.10:c.691_693del (HFE) MANE Select | ENSP00000417404.1:p.Tyr231del | |
| ENST00000309234.10:c.691_693del (HFE) | ENSP00000311698.6:p.Tyr231del | |
| ENST00000317896.11:c.415_417del (HFE) | ENSP00000313776.7:p.Tyr139del | |
| ENST00000336625.12:c.373_375del (HFE) | ENSP00000337819.8:p.Tyr125del | |
| ENST00000349999.8:c.427_429del (HFE) | ENSP00000259699.6:p.Tyr143del | |
| ENST00000352392.8:c.77-360_77-358del (HFE) | ENSP00000315936.4:n.77-360_77-358del | |
| ENST00000353147.9:c.151_153del (HFE) | ENSP00000312342.5:p.Tyr51del | |
| ENST00000357618.9:c.691_693del (HFE) | ENSP00000417404.1:p.Tyr231del | |
| ENST00000397022.7:c.622_624del (HFE) | ENSP00000380217.3:p.Tyr208del | |
| ENST00000461397.5:c.649_651del (HFE) | ENSP00000420802.1:p.Tyr217del | |
| ENST00000470149.5:c.682_684del (HFE) | ENSP00000419725.1:p.Tyr228del | |
| ENST00000483782.1:n.1022_1024del (HFE) | ||
| ENST00000486147.1:n.534_536del (HFE) | ||
| ENST00000488199.5:c.385_387del (HFE) | ENSP00000420559.1:p.Tyr129del | |
| ENST00000629531.1:c.132+31017_132+31019del (H2BC3) | ENSP00000486472.1:n.132+31017_132+31019del | |
| NM_000410.3:c.691_693del , LRG_748t1:c.691_693del (HFE) | NP_000401.1:p.Tyr231del | |
| NM_001300749.1:c.691_693del (HFE) | NP_001287678.1:p.Tyr231del | |
| NM_139003.2:c.373_375del (HFE) | NP_620572.1:p.Tyr125del | |
| NM_139004.2:c.415_417del (HFE) | NP_620573.1:p.Tyr139del | |
| NM_139006.2:c.649_651del (HFE) | NP_620575.1:p.Tyr217del | |
| NM_139007.2:c.427_429del (HFE) | NP_620576.1:p.Tyr143del | |
| NM_139008.2:c.385_387del (HFE) | NP_620577.1:p.Tyr129del | |
| NM_139009.2:c.622_624del (HFE) | NP_620578.1:p.Tyr208del | |
| NM_139010.2:c.151_153del (HFE) | NP_620579.1:p.Tyr51del | |
| NM_139011.2:c.77-360_77-358del (HFE) | NP_620580.1:n.77-360_77-358del | |
| XM_011514543.1:c.691_693del (HFE) | XP_011512845.1:p.Tyr231del | |
| XM_011514544.1:c.682_684del (HFE) | XP_011512846.1:p.Tyr228del | |
| XR_241893.2:n.813_815del (HFE) | ||
| XM_011514543.3:c.691_693del (HFE) | XP_011512845.1:p.Tyr231del | |
| XR_241893.4:n.785_787del (HFE) | ||
| NM_001300749.2:c.691_693del (HFE) | NP_001287678.1:p.Tyr231del | |
| NM_139003.3:c.373_375del (HFE) | NP_620572.1:p.Tyr125del | |
| NM_139004.3:c.415_417del (HFE) | NP_620573.1:p.Tyr139del | |
| NM_139006.3:c.649_651del (HFE) | NP_620575.1:p.Tyr217del | |
| NM_139007.3:c.427_429del (HFE) | NP_620576.1:p.Tyr143del | |
| NM_139008.3:c.385_387del (HFE) | NP_620577.1:p.Tyr129del | |
| NM_139009.3:c.622_624del (HFE) | NP_620578.1:p.Tyr208del | |
| NM_139010.3:c.151_153del (HFE) | NP_620579.1:p.Tyr51del | |
| NM_139011.3:c.77-360_77-358del (HFE) | NP_620580.1:n.77-360_77-358del | |
| NM_000410.4:c.691_693del (HFE) MANE Select | NP_000401.1:p.Tyr231del | |
| NM_001384164.1:c.691_693del (HFE) | NP_001371093.1:p.Tyr231del |