Canonical Allele Identifier: CA2695202869

Gene: HFE H2BC4 H2BC3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26092862_26092875dup , CM000668.2:g.26092862_26092875dup	GRCh38
NC_000006.11:g.26093090_26093103dup , CM000668.1:g.26093090_26093103dup	GRCh37
NC_000006.10:g.26201069_26201082dup	NCBI36
NG_008720.2:g.10582_10595dup , LRG_748:g.10582_10595dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485729.2:c.794_807dup (HFE)	ENSP00000417534.2:p.Leu270ArgfsTer4
ENST00000707188.1:c.391-1838_391-1825dup (H2BC4)	ENSP00000516775.1:n.391-1838_391-1825dup
ENST00000357618.10:c.794_807dup (HFE) MANE Select	ENSP00000417404.1:p.Leu270ArgfsTer4
ENST00000309234.10:c.794_807dup (HFE)	ENSP00000311698.6:p.Leu270ArgfsTer4
ENST00000317896.11:c.518_531dup (HFE)	ENSP00000313776.7:p.Leu178ArgfsTer4
ENST00000336625.12:c.476_489dup (HFE)	ENSP00000337819.8:p.Leu164ArgfsTer4
ENST00000349999.8:c.530_543dup (HFE)	ENSP00000259699.6:p.Leu182ArgfsTer4
ENST00000352392.8:c.77-257_77-244dup (HFE)	ENSP00000315936.4:n.77-257_77-244dup
ENST00000353147.9:c.254_267dup (HFE)	ENSP00000312342.5:p.Leu90ArgfsTer4
ENST00000357618.9:c.794_807dup (HFE)	ENSP00000417404.1:p.Leu270ArgfsTer4
ENST00000397022.7:c.725_738dup (HFE)	ENSP00000380217.3:p.Leu247ArgfsTer4
ENST00000461397.5:c.752_765dup (HFE)	ENSP00000420802.1:p.Leu256ArgfsTer4
ENST00000470149.5:c.785_798dup (HFE)	ENSP00000419725.1:p.Leu267ArgfsTer4
ENST00000483782.1:n.1125_1138dup (HFE)
ENST00000486147.1:n.637_650dup (HFE)
ENST00000488199.5:c.488_501dup (HFE)	ENSP00000420559.1:p.Leu168ArgfsTer4
ENST00000629531.1:c.132+30901_132+30914dup (H2BC3)	ENSP00000486472.1:n.132+30901_132+30914dup
NM_000410.3:c.794_807dup , LRG_748t1:c.794_807dup (HFE)	NP_000401.1:p.Leu270ArgfsTer4
NM_001300749.1:c.794_807dup (HFE)	NP_001287678.1:p.Leu270ArgfsTer4
NM_139003.2:c.476_489dup (HFE)	NP_620572.1:p.Leu164ArgfsTer4
NM_139004.2:c.518_531dup (HFE)	NP_620573.1:p.Leu178ArgfsTer4
NM_139006.2:c.752_765dup (HFE)	NP_620575.1:p.Leu256ArgfsTer4
NM_139007.2:c.530_543dup (HFE)	NP_620576.1:p.Leu182ArgfsTer4
NM_139008.2:c.488_501dup (HFE)	NP_620577.1:p.Leu168ArgfsTer4
NM_139009.2:c.725_738dup (HFE)	NP_620578.1:p.Leu247ArgfsTer4
NM_139010.2:c.254_267dup (HFE)	NP_620579.1:p.Leu90ArgfsTer4
NM_139011.2:c.77-257_77-244dup (HFE)	NP_620580.1:n.77-257_77-244dup
XM_011514543.1:c.794_807dup (HFE)	XP_011512845.1:p.Leu270ArgfsTer4
XM_011514544.1:c.785_798dup (HFE)	XP_011512846.1:p.Leu267ArgfsTer4
XR_241893.2:n.916_929dup (HFE)
XM_011514543.3:c.794_807dup (HFE)	XP_011512845.1:p.Leu270ArgfsTer4
XR_241893.4:n.888_901dup (HFE)
NM_001300749.2:c.794_807dup (HFE)	NP_001287678.1:p.Leu270ArgfsTer4
NM_139003.3:c.476_489dup (HFE)	NP_620572.1:p.Leu164ArgfsTer4
NM_139004.3:c.518_531dup (HFE)	NP_620573.1:p.Leu178ArgfsTer4
NM_139006.3:c.752_765dup (HFE)	NP_620575.1:p.Leu256ArgfsTer4
NM_139007.3:c.530_543dup (HFE)	NP_620576.1:p.Leu182ArgfsTer4
NM_139008.3:c.488_501dup (HFE)	NP_620577.1:p.Leu168ArgfsTer4
NM_139009.3:c.725_738dup (HFE)	NP_620578.1:p.Leu247ArgfsTer4
NM_139010.3:c.254_267dup (HFE)	NP_620579.1:p.Leu90ArgfsTer4
NM_139011.3:c.77-257_77-244dup (HFE)	NP_620580.1:n.77-257_77-244dup
NM_000410.4:c.794_807dup (HFE) MANE Select	NP_000401.1:p.Leu270ArgfsTer4
NM_001384164.1:c.794_807dup (HFE)	NP_001371093.1:p.Leu270ArgfsTer4