Canonical Allele Identifier: CA3666722

Gene: HFE H2BC4 H2BC3

Linked Data

• dbSNP Id: rs750047292
• ExAC: 6:26092996 A / AACTACTACTAAGCC
• gnomAD v2: 6-26092996-A-AACTACTACTAAGCC
• gnomAD v4: 6-26092768-A-AACTACTACTAAGCC
• MyVariant Identifiers: chr6:g.26092996_26092997insACTACTACTAAGCC (hg19) ; chr6:g.26092768_26092769insACTACTACTAAGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26092770_26092771insTACTACTAAGCCAC , CM000668.2:g.26092770_26092771insTACTACTAAGCCAC	GRCh38
NC_000006.11:g.26092998_26092999insTACTACTAAGCCAC , CM000668.1:g.26092998_26092999insTACTACTAAGCCAC	GRCh37
NC_000006.10:g.26200977_26200978insTACTACTAAGCCAC	NCBI36
NG_008720.2:g.10490_10491insTACTACTAAGCCAC , LRG_748:g.10490_10491insTACTACTAAGCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485729.2:c.702_703insTACTACTAAGCCAC (HFE)	ENSP00000417534.2:p.Ile235TyrfsTer3
ENST00000707188.1:c.391-1735_391-1734insGGCTTAGTAGTAGT (H2BC4)	ENSP00000516775.1:n.391-1735_391-1734insGGCTTAGTAGTAGT
ENST00000357618.10:c.702_703insTACTACTAAGCCAC (HFE) MANE Select	ENSP00000417404.1:p.Ile235TyrfsTer3
ENST00000309234.10:c.702_703insTACTACTAAGCCAC (HFE)	ENSP00000311698.6:p.Ile235TyrfsTer3
ENST00000317896.11:c.426_427insTACTACTAAGCCAC (HFE)	ENSP00000313776.7:p.Ile143TyrfsTer3
ENST00000336625.12:c.384_385insTACTACTAAGCCAC (HFE)	ENSP00000337819.8:p.Ile129TyrfsTer3
ENST00000349999.8:c.438_439insTACTACTAAGCCAC (HFE)	ENSP00000259699.6:p.Ile147TyrfsTer3
ENST00000352392.8:c.77-349_77-348insTACTACTAAGCCAC (HFE)	ENSP00000315936.4:n.77-349_77-348insTACTACTAAGCCAC
ENST00000353147.9:c.162_163insTACTACTAAGCCAC (HFE)	ENSP00000312342.5:p.Ile55TyrfsTer3
ENST00000357618.9:c.702_703insTACTACTAAGCCAC (HFE)	ENSP00000417404.1:p.Ile235TyrfsTer3
ENST00000397022.7:c.633_634insTACTACTAAGCCAC (HFE)	ENSP00000380217.3:p.Ile212TyrfsTer3
ENST00000461397.5:c.660_661insTACTACTAAGCCAC (HFE)	ENSP00000420802.1:p.Ile221TyrfsTer3
ENST00000470149.5:c.693_694insTACTACTAAGCCAC (HFE)	ENSP00000419725.1:p.Ile232TyrfsTer3
ENST00000483782.1:n.1033_1034insTACTACTAAGCCAC (HFE)
ENST00000486147.1:n.545_546insTACTACTAAGCCAC (HFE)
ENST00000488199.5:c.396_397insTACTACTAAGCCAC (HFE)	ENSP00000420559.1:p.Ile133TyrfsTer3
ENST00000629531.1:c.132+31004_132+31005insGGCTTAGTAGTAGT (H2BC3)	ENSP00000486472.1:n.132+31004_132+31005insGGCTTAGTAGTAGT
NM_000410.3:c.702_703insTACTACTAAGCCAC , LRG_748t1:c.702_703insTACTACTAAGCCAC (HFE)	NP_000401.1:p.Ile235TyrfsTer3
NM_001300749.1:c.702_703insTACTACTAAGCCAC (HFE)	NP_001287678.1:p.Ile235TyrfsTer3
NM_139003.2:c.384_385insTACTACTAAGCCAC (HFE)	NP_620572.1:p.Ile129TyrfsTer3
NM_139004.2:c.426_427insTACTACTAAGCCAC (HFE)	NP_620573.1:p.Ile143TyrfsTer3
NM_139006.2:c.660_661insTACTACTAAGCCAC (HFE)	NP_620575.1:p.Ile221TyrfsTer3
NM_139007.2:c.438_439insTACTACTAAGCCAC (HFE)	NP_620576.1:p.Ile147TyrfsTer3
NM_139008.2:c.396_397insTACTACTAAGCCAC (HFE)	NP_620577.1:p.Ile133TyrfsTer3
NM_139009.2:c.633_634insTACTACTAAGCCAC (HFE)	NP_620578.1:p.Ile212TyrfsTer3
NM_139010.2:c.162_163insTACTACTAAGCCAC (HFE)	NP_620579.1:p.Ile55TyrfsTer3
NM_139011.2:c.77-349_77-348insTACTACTAAGCCAC (HFE)	NP_620580.1:n.77-349_77-348insTACTACTAAGCCAC
XM_011514543.1:c.702_703insTACTACTAAGCCAC (HFE)	XP_011512845.1:p.Ile235TyrfsTer3
XM_011514544.1:c.693_694insTACTACTAAGCCAC (HFE)	XP_011512846.1:p.Ile232TyrfsTer3
XR_241893.2:n.824_825insTACTACTAAGCCAC (HFE)
XM_011514543.3:c.702_703insTACTACTAAGCCAC (HFE)	XP_011512845.1:p.Ile235TyrfsTer3
XR_241893.4:n.796_797insTACTACTAAGCCAC (HFE)
NM_001300749.2:c.702_703insTACTACTAAGCCAC (HFE)	NP_001287678.1:p.Ile235TyrfsTer3
NM_139003.3:c.384_385insTACTACTAAGCCAC (HFE)	NP_620572.1:p.Ile129TyrfsTer3
NM_139004.3:c.426_427insTACTACTAAGCCAC (HFE)	NP_620573.1:p.Ile143TyrfsTer3
NM_139006.3:c.660_661insTACTACTAAGCCAC (HFE)	NP_620575.1:p.Ile221TyrfsTer3
NM_139007.3:c.438_439insTACTACTAAGCCAC (HFE)	NP_620576.1:p.Ile147TyrfsTer3
NM_139008.3:c.396_397insTACTACTAAGCCAC (HFE)	NP_620577.1:p.Ile133TyrfsTer3
NM_139009.3:c.633_634insTACTACTAAGCCAC (HFE)	NP_620578.1:p.Ile212TyrfsTer3
NM_139010.3:c.162_163insTACTACTAAGCCAC (HFE)	NP_620579.1:p.Ile55TyrfsTer3
NM_139011.3:c.77-349_77-348insTACTACTAAGCCAC (HFE)	NP_620580.1:n.77-349_77-348insTACTACTAAGCCAC
NM_000410.4:c.702_703insTACTACTAAGCCAC (HFE) MANE Select	NP_000401.1:p.Ile235TyrfsTer3
NM_001384164.1:c.702_703insTACTACTAAGCCAC (HFE)	NP_001371093.1:p.Ile235TyrfsTer3