Canonical Allele Identifier: CA1616889939

Gene: HFE H2BC4 H2BC3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26092884_26092885delinsAC , CM000668.2:g.26092884_26092885delinsAC	GRCh38
NC_000006.11:g.26093112_26093113delinsAC , CM000668.1:g.26093112_26093113delinsAC	GRCh37
NC_000006.10:g.26201091_26201092delinsAC	NCBI36
NG_008720.2:g.10604_10605delinsAC , LRG_748:g.10604_10605delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485729.2:c.816_817delinsAC (HFE)	ENSP00000417534.2:p.Val272=
ENST00000707188.1:c.391-1851_391-1850delinsGT (H2BC4)	ENSP00000516775.1:n.391-1851_391-1850delinsGT
ENST00000357618.10:c.816_817delinsAC (HFE) MANE Select	ENSP00000417404.1:p.Val272=
ENST00000309234.10:c.816_817delinsAC (HFE)	ENSP00000311698.6:p.Val272=
ENST00000317896.11:c.540_541delinsAC (HFE)	ENSP00000313776.7:p.Val180=
ENST00000336625.12:c.498_499delinsAC (HFE)	ENSP00000337819.8:p.Val166=
ENST00000349999.8:c.552_553delinsAC (HFE)	ENSP00000259699.6:p.Val184=
ENST00000352392.8:c.77-235_77-234delinsAC (HFE)	ENSP00000315936.4:n.77-235_77-234delinsAC
ENST00000353147.9:c.276_277delinsAC (HFE)	ENSP00000312342.5:p.Val92=
ENST00000357618.9:c.816_817delinsAC (HFE)	ENSP00000417404.1:p.Val272=
ENST00000397022.7:c.747_748delinsAC (HFE)	ENSP00000380217.3:p.Val249=
ENST00000461397.5:c.774_775delinsAC (HFE)	ENSP00000420802.1:p.Val258=
ENST00000470149.5:c.807_808delinsAC (HFE)	ENSP00000419725.1:p.Val269=
ENST00000483782.1:n.1147_1148delinsAC (HFE)
ENST00000486147.1:n.659_660delinsAC (HFE)
ENST00000488199.5:c.510_511delinsAC (HFE)	ENSP00000420559.1:p.Val170=
ENST00000629531.1:c.132+30888_132+30889delinsGT (H2BC3)	ENSP00000486472.1:n.132+30888_132+30889delinsGT
NM_000410.3:c.816_817delinsAC , LRG_748t1:c.816_817delinsAC (HFE)	NP_000401.1:p.Val272=
NM_001300749.1:c.816_817delinsAC (HFE)	NP_001287678.1:p.Val272=
NM_139003.2:c.498_499delinsAC (HFE)	NP_620572.1:p.Val166=
NM_139004.2:c.540_541delinsAC (HFE)	NP_620573.1:p.Val180=
NM_139006.2:c.774_775delinsAC (HFE)	NP_620575.1:p.Val258=
NM_139007.2:c.552_553delinsAC (HFE)	NP_620576.1:p.Val184=
NM_139008.2:c.510_511delinsAC (HFE)	NP_620577.1:p.Val170=
NM_139009.2:c.747_748delinsAC (HFE)	NP_620578.1:p.Val249=
NM_139010.2:c.276_277delinsAC (HFE)	NP_620579.1:p.Val92=
NM_139011.2:c.77-235_77-234delinsAC (HFE)	NP_620580.1:n.77-235_77-234delinsAC
XM_011514543.1:c.816_817delinsAC (HFE)	XP_011512845.1:p.Val272=
XM_011514544.1:c.807_808delinsAC (HFE)	XP_011512846.1:p.Val269=
XR_241893.2:n.938_939delinsAC (HFE)
XM_011514543.3:c.816_817delinsAC (HFE)	XP_011512845.1:p.Val272=
XR_241893.4:n.910_911delinsAC (HFE)
NM_001300749.2:c.816_817delinsAC (HFE)	NP_001287678.1:p.Val272=
NM_139003.3:c.498_499delinsAC (HFE)	NP_620572.1:p.Val166=
NM_139004.3:c.540_541delinsAC (HFE)	NP_620573.1:p.Val180=
NM_139006.3:c.774_775delinsAC (HFE)	NP_620575.1:p.Val258=
NM_139007.3:c.552_553delinsAC (HFE)	NP_620576.1:p.Val184=
NM_139008.3:c.510_511delinsAC (HFE)	NP_620577.1:p.Val170=
NM_139009.3:c.747_748delinsAC (HFE)	NP_620578.1:p.Val249=
NM_139010.3:c.276_277delinsAC (HFE)	NP_620579.1:p.Val92=
NM_139011.3:c.77-235_77-234delinsAC (HFE)	NP_620580.1:n.77-235_77-234delinsAC
NM_000410.4:c.816_817delinsAC (HFE) MANE Select	NP_000401.1:p.Val272=
NM_001384164.1:c.816_817delinsAC (HFE)	NP_001371093.1:p.Val272=