Canonical Allele Identifier: CA2677605462

Gene: HFE H2BC4 H2BC3

Linked Data

• gnomAD v4: 6-26092862-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26092865del , CM000668.2:g.26092865del	GRCh38
NC_000006.11:g.26093093del , CM000668.1:g.26093093del	GRCh37
NC_000006.10:g.26201072del	NCBI36
NG_008720.2:g.10585del , LRG_748:g.10585del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485729.2:c.797del (HFE)	ENSP00000417534.2:p.Gly266AlafsTer3
ENST00000707188.1:c.391-1829del (H2BC4)	ENSP00000516775.1:n.391-1829del
ENST00000357618.10:c.797del (HFE) MANE Select	ENSP00000417404.1:p.Gly266AlafsTer3
ENST00000309234.10:c.797del (HFE)	ENSP00000311698.6:p.Gly266AlafsTer3
ENST00000317896.11:c.521del (HFE)	ENSP00000313776.7:p.Gly174AlafsTer3
ENST00000336625.12:c.479del (HFE)	ENSP00000337819.8:p.Gly160AlafsTer3
ENST00000349999.8:c.533del (HFE)	ENSP00000259699.6:p.Gly178AlafsTer3
ENST00000352392.8:c.77-254del (HFE)	ENSP00000315936.4:n.77-254del
ENST00000353147.9:c.257del (HFE)	ENSP00000312342.5:p.Gly86AlafsTer3
ENST00000357618.9:c.797del (HFE)	ENSP00000417404.1:p.Gly266AlafsTer3
ENST00000397022.7:c.728del (HFE)	ENSP00000380217.3:p.Gly243AlafsTer3
ENST00000461397.5:c.755del (HFE)	ENSP00000420802.1:p.Gly252AlafsTer3
ENST00000470149.5:c.788del (HFE)	ENSP00000419725.1:p.Gly263AlafsTer3
ENST00000483782.1:n.1128del (HFE)
ENST00000486147.1:n.640del (HFE)
ENST00000488199.5:c.491del (HFE)	ENSP00000420559.1:p.Gly164AlafsTer3
ENST00000629531.1:c.132+30910del (H2BC3)	ENSP00000486472.1:n.132+30910del
NM_000410.3:c.797del , LRG_748t1:c.797del (HFE)	NP_000401.1:p.Gly266AlafsTer3
NM_001300749.1:c.797del (HFE)	NP_001287678.1:p.Gly266AlafsTer3
NM_139003.2:c.479del (HFE)	NP_620572.1:p.Gly160AlafsTer3
NM_139004.2:c.521del (HFE)	NP_620573.1:p.Gly174AlafsTer3
NM_139006.2:c.755del (HFE)	NP_620575.1:p.Gly252AlafsTer3
NM_139007.2:c.533del (HFE)	NP_620576.1:p.Gly178AlafsTer3
NM_139008.2:c.491del (HFE)	NP_620577.1:p.Gly164AlafsTer3
NM_139009.2:c.728del (HFE)	NP_620578.1:p.Gly243AlafsTer3
NM_139010.2:c.257del (HFE)	NP_620579.1:p.Gly86AlafsTer3
NM_139011.2:c.77-254del (HFE)	NP_620580.1:n.77-254del
XM_011514543.1:c.797del (HFE)	XP_011512845.1:p.Gly266AlafsTer3
XM_011514544.1:c.788del (HFE)	XP_011512846.1:p.Gly263AlafsTer3
XR_241893.2:n.919del (HFE)
XM_011514543.3:c.797del (HFE)	XP_011512845.1:p.Gly266AlafsTer3
XR_241893.4:n.891del (HFE)
NM_001300749.2:c.797del (HFE)	NP_001287678.1:p.Gly266AlafsTer3
NM_139003.3:c.479del (HFE)	NP_620572.1:p.Gly160AlafsTer3
NM_139004.3:c.521del (HFE)	NP_620573.1:p.Gly174AlafsTer3
NM_139006.3:c.755del (HFE)	NP_620575.1:p.Gly252AlafsTer3
NM_139007.3:c.533del (HFE)	NP_620576.1:p.Gly178AlafsTer3
NM_139008.3:c.491del (HFE)	NP_620577.1:p.Gly164AlafsTer3
NM_139009.3:c.728del (HFE)	NP_620578.1:p.Gly243AlafsTer3
NM_139010.3:c.257del (HFE)	NP_620579.1:p.Gly86AlafsTer3
NM_139011.3:c.77-254del (HFE)	NP_620580.1:n.77-254del
NM_000410.4:c.797del (HFE) MANE Select	NP_000401.1:p.Gly266AlafsTer3
NM_001384164.1:c.797del (HFE)	NP_001371093.1:p.Gly266AlafsTer3