Canonical Allele Identifier: CA2677605460

Gene: HFE H2BC4 H2BC3

Linked Data

• gnomAD v4: 6-26092760-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26092765del , CM000668.2:g.26092765del	GRCh38
NC_000006.11:g.26092993del , CM000668.1:g.26092993del	GRCh37
NC_000006.10:g.26200972del	NCBI36
NG_008720.2:g.10485del , LRG_748:g.10485del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485729.2:c.697del (HFE)	ENSP00000417534.2:p.Gln233ArgfsTer5
ENST00000707188.1:c.391-1727del (H2BC4)	ENSP00000516775.1:n.391-1727del
ENST00000357618.10:c.697del (HFE) MANE Select	ENSP00000417404.1:p.Gln233ArgfsTer5
ENST00000309234.10:c.697del (HFE)	ENSP00000311698.6:p.Gln233ArgfsTer5
ENST00000317896.11:c.421del (HFE)	ENSP00000313776.7:p.Gln141ArgfsTer5
ENST00000336625.12:c.379del (HFE)	ENSP00000337819.8:p.Gln127ArgfsTer5
ENST00000349999.8:c.433del (HFE)	ENSP00000259699.6:p.Gln145ArgfsTer5
ENST00000352392.8:c.77-354del (HFE)	ENSP00000315936.4:n.77-354del
ENST00000353147.9:c.157del (HFE)	ENSP00000312342.5:p.Gln53ArgfsTer5
ENST00000357618.9:c.697del (HFE)	ENSP00000417404.1:p.Gln233ArgfsTer5
ENST00000397022.7:c.628del (HFE)	ENSP00000380217.3:p.Gln210ArgfsTer5
ENST00000461397.5:c.655del (HFE)	ENSP00000420802.1:p.Gln219ArgfsTer5
ENST00000470149.5:c.688del (HFE)	ENSP00000419725.1:p.Gln230ArgfsTer5
ENST00000483782.1:n.1028del (HFE)
ENST00000486147.1:n.540del (HFE)
ENST00000488199.5:c.391del (HFE)	ENSP00000420559.1:p.Gln131ArgfsTer5
ENST00000629531.1:c.132+31012del (H2BC3)	ENSP00000486472.1:n.132+31012del
NM_000410.3:c.697del , LRG_748t1:c.697del (HFE)	NP_000401.1:p.Gln233ArgfsTer5
NM_001300749.1:c.697del (HFE)	NP_001287678.1:p.Gln233ArgfsTer5
NM_139003.2:c.379del (HFE)	NP_620572.1:p.Gln127ArgfsTer5
NM_139004.2:c.421del (HFE)	NP_620573.1:p.Gln141ArgfsTer5
NM_139006.2:c.655del (HFE)	NP_620575.1:p.Gln219ArgfsTer5
NM_139007.2:c.433del (HFE)	NP_620576.1:p.Gln145ArgfsTer5
NM_139008.2:c.391del (HFE)	NP_620577.1:p.Gln131ArgfsTer5
NM_139009.2:c.628del (HFE)	NP_620578.1:p.Gln210ArgfsTer5
NM_139010.2:c.157del (HFE)	NP_620579.1:p.Gln53ArgfsTer5
NM_139011.2:c.77-354del (HFE)	NP_620580.1:n.77-354del
XM_011514543.1:c.697del (HFE)	XP_011512845.1:p.Gln233ArgfsTer5
XM_011514544.1:c.688del (HFE)	XP_011512846.1:p.Gln230ArgfsTer5
XR_241893.2:n.819del (HFE)
XM_011514543.3:c.697del (HFE)	XP_011512845.1:p.Gln233ArgfsTer5
XR_241893.4:n.791del (HFE)
NM_001300749.2:c.697del (HFE)	NP_001287678.1:p.Gln233ArgfsTer5
NM_139003.3:c.379del (HFE)	NP_620572.1:p.Gln127ArgfsTer5
NM_139004.3:c.421del (HFE)	NP_620573.1:p.Gln141ArgfsTer5
NM_139006.3:c.655del (HFE)	NP_620575.1:p.Gln219ArgfsTer5
NM_139007.3:c.433del (HFE)	NP_620576.1:p.Gln145ArgfsTer5
NM_139008.3:c.391del (HFE)	NP_620577.1:p.Gln131ArgfsTer5
NM_139009.3:c.628del (HFE)	NP_620578.1:p.Gln210ArgfsTer5
NM_139010.3:c.157del (HFE)	NP_620579.1:p.Gln53ArgfsTer5
NM_139011.3:c.77-354del (HFE)	NP_620580.1:n.77-354del
NM_000410.4:c.697del (HFE) MANE Select	NP_000401.1:p.Gln233ArgfsTer5
NM_001384164.1:c.697del (HFE)	NP_001371093.1:p.Gln233ArgfsTer5