Canonical Allele Identifier: CA2677605459

Gene: HFE H2BC4 H2BC3

Linked Data

• gnomAD v4: 6-26092739-G-GGT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26092742_26092743dup , CM000668.2:g.26092742_26092743dup	GRCh38
NC_000006.11:g.26092970_26092971dup , CM000668.1:g.26092970_26092971dup	GRCh37
NC_000006.10:g.26200949_26200950dup	NCBI36
NG_008720.2:g.10462_10463dup , LRG_748:g.10462_10463dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485729.2:c.674_675dup (HFE)	ENSP00000417534.2:p.Arg226ValfsTer4
ENST00000707188.1:c.391-1707_391-1706dup (H2BC4)	ENSP00000516775.1:n.391-1707_391-1706dup
ENST00000357618.10:c.674_675dup (HFE) MANE Select	ENSP00000417404.1:p.Arg226ValfsTer4
ENST00000309234.10:c.674_675dup (HFE)	ENSP00000311698.6:p.Arg226ValfsTer4
ENST00000317896.11:c.398_399dup (HFE)	ENSP00000313776.7:p.Arg134ValfsTer4
ENST00000336625.12:c.356_357dup (HFE)	ENSP00000337819.8:p.Arg120ValfsTer4
ENST00000349999.8:c.410_411dup (HFE)	ENSP00000259699.6:p.Arg138ValfsTer4
ENST00000352392.8:c.77-377_77-376dup (HFE)	ENSP00000315936.4:n.77-377_77-376dup
ENST00000353147.9:c.134_135dup (HFE)	ENSP00000312342.5:p.Arg46ValfsTer4
ENST00000357618.9:c.674_675dup (HFE)	ENSP00000417404.1:p.Arg226ValfsTer4
ENST00000397022.7:c.605_606dup (HFE)	ENSP00000380217.3:p.Arg203ValfsTer4
ENST00000461397.5:c.632_633dup (HFE)	ENSP00000420802.1:p.Arg212ValfsTer4
ENST00000470149.5:c.665_666dup (HFE)	ENSP00000419725.1:p.Arg223ValfsTer4
ENST00000483782.1:n.1005_1006dup (HFE)
ENST00000486147.1:n.517_518dup (HFE)
ENST00000488199.5:c.368_369dup (HFE)	ENSP00000420559.1:p.Arg124ValfsTer4
ENST00000629531.1:c.132+31032_132+31033dup (H2BC3)	ENSP00000486472.1:n.132+31032_132+31033dup
NM_000410.3:c.674_675dup , LRG_748t1:c.674_675dup (HFE)	NP_000401.1:p.Arg226ValfsTer4
NM_001300749.1:c.674_675dup (HFE)	NP_001287678.1:p.Arg226ValfsTer4
NM_139003.2:c.356_357dup (HFE)	NP_620572.1:p.Arg120ValfsTer4
NM_139004.2:c.398_399dup (HFE)	NP_620573.1:p.Arg134ValfsTer4
NM_139006.2:c.632_633dup (HFE)	NP_620575.1:p.Arg212ValfsTer4
NM_139007.2:c.410_411dup (HFE)	NP_620576.1:p.Arg138ValfsTer4
NM_139008.2:c.368_369dup (HFE)	NP_620577.1:p.Arg124ValfsTer4
NM_139009.2:c.605_606dup (HFE)	NP_620578.1:p.Arg203ValfsTer4
NM_139010.2:c.134_135dup (HFE)	NP_620579.1:p.Arg46ValfsTer4
NM_139011.2:c.77-377_77-376dup (HFE)	NP_620580.1:n.77-377_77-376dup
XM_011514543.1:c.674_675dup (HFE)	XP_011512845.1:p.Arg226ValfsTer4
XM_011514544.1:c.665_666dup (HFE)	XP_011512846.1:p.Arg223ValfsTer4
XR_241893.2:n.796_797dup (HFE)
XM_011514543.3:c.674_675dup (HFE)	XP_011512845.1:p.Arg226ValfsTer4
XR_241893.4:n.768_769dup (HFE)
NM_001300749.2:c.674_675dup (HFE)	NP_001287678.1:p.Arg226ValfsTer4
NM_139003.3:c.356_357dup (HFE)	NP_620572.1:p.Arg120ValfsTer4
NM_139004.3:c.398_399dup (HFE)	NP_620573.1:p.Arg134ValfsTer4
NM_139006.3:c.632_633dup (HFE)	NP_620575.1:p.Arg212ValfsTer4
NM_139007.3:c.410_411dup (HFE)	NP_620576.1:p.Arg138ValfsTer4
NM_139008.3:c.368_369dup (HFE)	NP_620577.1:p.Arg124ValfsTer4
NM_139009.3:c.605_606dup (HFE)	NP_620578.1:p.Arg203ValfsTer4
NM_139010.3:c.134_135dup (HFE)	NP_620579.1:p.Arg46ValfsTer4
NM_139011.3:c.77-377_77-376dup (HFE)	NP_620580.1:n.77-377_77-376dup
NM_000410.4:c.674_675dup (HFE) MANE Select	NP_000401.1:p.Arg226ValfsTer4
NM_001384164.1:c.674_675dup (HFE)	NP_001371093.1:p.Arg226ValfsTer4