Canonical Allele Identifier: CA2697546648

Gene: HFE H2BC4 H2BC3

Linked Data

• ClinVar Variation Id: 2710835
• ClinVar RCV Id: RCV003590486

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26092731del , CM000668.2:g.26092731del	GRCh38
NC_000006.11:g.26092959del , CM000668.1:g.26092959del	GRCh37
NC_000006.10:g.26200938del	NCBI36
NG_008720.2:g.10451del , LRG_748:g.10451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485729.2:c.663del (HFE)	ENSP00000417534.2:p.Thr222LeufsTer7
ENST00000707188.1:c.391-1696del (H2BC4)	ENSP00000516775.1:n.391-1696del
ENST00000357618.10:c.663del (HFE) MANE Select	ENSP00000417404.1:p.Thr222LeufsTer7
ENST00000309234.10:c.663del (HFE)	ENSP00000311698.6:p.Thr222LeufsTer7
ENST00000317896.11:c.387del (HFE)	ENSP00000313776.7:p.Thr130LeufsTer7
ENST00000336625.12:c.345del (HFE)	ENSP00000337819.8:p.Thr116LeufsTer7
ENST00000349999.8:c.399del (HFE)	ENSP00000259699.6:p.Thr134LeufsTer7
ENST00000352392.8:c.77-388del (HFE)	ENSP00000315936.4:n.77-388del
ENST00000353147.9:c.123del (HFE)	ENSP00000312342.5:p.Thr42LeufsTer7
ENST00000357618.9:c.663del (HFE)	ENSP00000417404.1:p.Thr222LeufsTer7
ENST00000397022.7:c.594del (HFE)	ENSP00000380217.3:p.Thr199LeufsTer7
ENST00000461397.5:c.621del (HFE)	ENSP00000420802.1:p.Thr208LeufsTer7
ENST00000470149.5:c.654del (HFE)	ENSP00000419725.1:p.Thr219LeufsTer7
ENST00000483782.1:n.994del (HFE)
ENST00000486147.1:n.506del (HFE)
ENST00000488199.5:c.357del (HFE)	ENSP00000420559.1:p.Thr120LeufsTer7
ENST00000629531.1:c.132+31043del (H2BC3)	ENSP00000486472.1:n.132+31043del
NM_000410.3:c.663del , LRG_748t1:c.663del (HFE)	NP_000401.1:p.Thr222LeufsTer7
NM_001300749.1:c.663del (HFE)	NP_001287678.1:p.Thr222LeufsTer7
NM_139003.2:c.345del (HFE)	NP_620572.1:p.Thr116LeufsTer7
NM_139004.2:c.387del (HFE)	NP_620573.1:p.Thr130LeufsTer7
NM_139006.2:c.621del (HFE)	NP_620575.1:p.Thr208LeufsTer7
NM_139007.2:c.399del (HFE)	NP_620576.1:p.Thr134LeufsTer7
NM_139008.2:c.357del (HFE)	NP_620577.1:p.Thr120LeufsTer7
NM_139009.2:c.594del (HFE)	NP_620578.1:p.Thr199LeufsTer7
NM_139010.2:c.123del (HFE)	NP_620579.1:p.Thr42LeufsTer7
NM_139011.2:c.77-388del (HFE)	NP_620580.1:n.77-388del
XM_011514543.1:c.663del (HFE)	XP_011512845.1:p.Thr222LeufsTer7
XM_011514544.1:c.654del (HFE)	XP_011512846.1:p.Thr219LeufsTer7
XR_241893.2:n.785del (HFE)
XM_011514543.3:c.663del (HFE)	XP_011512845.1:p.Thr222LeufsTer7
XR_241893.4:n.757del (HFE)
NM_001300749.2:c.663del (HFE)	NP_001287678.1:p.Thr222LeufsTer7
NM_139003.3:c.345del (HFE)	NP_620572.1:p.Thr116LeufsTer7
NM_139004.3:c.387del (HFE)	NP_620573.1:p.Thr130LeufsTer7
NM_139006.3:c.621del (HFE)	NP_620575.1:p.Thr208LeufsTer7
NM_139007.3:c.399del (HFE)	NP_620576.1:p.Thr134LeufsTer7
NM_139008.3:c.357del (HFE)	NP_620577.1:p.Thr120LeufsTer7
NM_139009.3:c.594del (HFE)	NP_620578.1:p.Thr199LeufsTer7
NM_139010.3:c.123del (HFE)	NP_620579.1:p.Thr42LeufsTer7
NM_139011.3:c.77-388del (HFE)	NP_620580.1:n.77-388del
NM_000410.4:c.663del (HFE) MANE Select	NP_000401.1:p.Thr222LeufsTer7
NM_001384164.1:c.663del (HFE)	NP_001371093.1:p.Thr222LeufsTer7