Canonical Allele Identifier: CA658796729

Gene: HFE H2BC4 H2BC3

Linked Data

• ClinVar Variation Id: 530393
• ClinVar RCV Id: RCV000636244
• dbSNP Id: rs1554154042
• MyVariant Identifiers: chr6:g.26093058del (hg19) ; chr6:g.26092830del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26092830del , CM000668.2:g.26092830del	GRCh38
NC_000006.11:g.26093058del , CM000668.1:g.26093058del	GRCh37
NC_000006.10:g.26201037del	NCBI36
NG_008720.2:g.10550del , LRG_748:g.10550del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485729.2:c.762del (HFE)	ENSP00000417534.2:p.Asp255ThrfsTer14
ENST00000707188.1:c.391-1794del (H2BC4)	ENSP00000516775.1:n.391-1794del
ENST00000357618.10:c.762del (HFE) MANE Select	ENSP00000417404.1:p.Asp255ThrfsTer14
ENST00000309234.10:c.762del (HFE)	ENSP00000311698.6:p.Asp255ThrfsTer14
ENST00000317896.11:c.486del (HFE)	ENSP00000313776.7:p.Asp163ThrfsTer14
ENST00000336625.12:c.444del (HFE)	ENSP00000337819.8:p.Asp149ThrfsTer14
ENST00000349999.8:c.498del (HFE)	ENSP00000259699.6:p.Asp167ThrfsTer14
ENST00000352392.8:c.77-289del (HFE)	ENSP00000315936.4:n.77-289del
ENST00000353147.9:c.222del (HFE)	ENSP00000312342.5:p.Asp75ThrfsTer14
ENST00000357618.9:c.762del (HFE)	ENSP00000417404.1:p.Asp255ThrfsTer14
ENST00000397022.7:c.693del (HFE)	ENSP00000380217.3:p.Asp232ThrfsTer14
ENST00000461397.5:c.720del (HFE)	ENSP00000420802.1:p.Asp241ThrfsTer14
ENST00000470149.5:c.753del (HFE)	ENSP00000419725.1:p.Asp252ThrfsTer14
ENST00000483782.1:n.1093del (HFE)
ENST00000486147.1:n.605del (HFE)
ENST00000488199.5:c.456del (HFE)	ENSP00000420559.1:p.Asp153ThrfsTer14
ENST00000629531.1:c.132+30945del (H2BC3)	ENSP00000486472.1:n.132+30945del
NM_000410.3:c.762del , LRG_748t1:c.762del (HFE)	NP_000401.1:p.Asp255ThrfsTer14
NM_001300749.1:c.762del (HFE)	NP_001287678.1:p.Asp255ThrfsTer14
NM_139003.2:c.444del (HFE)	NP_620572.1:p.Asp149ThrfsTer14
NM_139004.2:c.486del (HFE)	NP_620573.1:p.Asp163ThrfsTer14
NM_139006.2:c.720del (HFE)	NP_620575.1:p.Asp241ThrfsTer14
NM_139007.2:c.498del (HFE)	NP_620576.1:p.Asp167ThrfsTer14
NM_139008.2:c.456del (HFE)	NP_620577.1:p.Asp153ThrfsTer14
NM_139009.2:c.693del (HFE)	NP_620578.1:p.Asp232ThrfsTer14
NM_139010.2:c.222del (HFE)	NP_620579.1:p.Asp75ThrfsTer14
NM_139011.2:c.77-289del (HFE)	NP_620580.1:n.77-289del
XM_011514543.1:c.762del (HFE)	XP_011512845.1:p.Asp255ThrfsTer14
XM_011514544.1:c.753del (HFE)	XP_011512846.1:p.Asp252ThrfsTer14
XR_241893.2:n.884del (HFE)
XM_011514543.3:c.762del (HFE)	XP_011512845.1:p.Asp255ThrfsTer14
XR_241893.4:n.856del (HFE)
NM_001300749.2:c.762del (HFE)	NP_001287678.1:p.Asp255ThrfsTer14
NM_139003.3:c.444del (HFE)	NP_620572.1:p.Asp149ThrfsTer14
NM_139004.3:c.486del (HFE)	NP_620573.1:p.Asp163ThrfsTer14
NM_139006.3:c.720del (HFE)	NP_620575.1:p.Asp241ThrfsTer14
NM_139007.3:c.498del (HFE)	NP_620576.1:p.Asp167ThrfsTer14
NM_139008.3:c.456del (HFE)	NP_620577.1:p.Asp153ThrfsTer14
NM_139009.3:c.693del (HFE)	NP_620578.1:p.Asp232ThrfsTer14
NM_139010.3:c.222del (HFE)	NP_620579.1:p.Asp75ThrfsTer14
NM_139011.3:c.77-289del (HFE)	NP_620580.1:n.77-289del
NM_000410.4:c.762del (HFE) MANE Select	NP_000401.1:p.Asp255ThrfsTer14
NM_001384164.1:c.762del (HFE)	NP_001371093.1:p.Asp255ThrfsTer14