Canonical Allele Identifier: CA3666710

Gene: HFE H2BC4 H2BC3

Linked Data

• dbSNP Id: rs761391204
• ExAC: 6:26092960 ACT / A
• gnomAD v2: 6-26092960-ACT-A
• gnomAD v4: 6-26092732-ACT-A
• MyVariant Identifiers: chr6:g.26092961_26092962del (hg19) ; chr6:g.26092733_26092734del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26092735_26092736del , CM000668.2:g.26092735_26092736del	GRCh38
NC_000006.11:g.26092963_26092964del , CM000668.1:g.26092963_26092964del	GRCh37
NC_000006.10:g.26200942_26200943del	NCBI36
NG_008720.2:g.10455_10456del , LRG_748:g.10455_10456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485729.2:c.667_668del (HFE)	ENSP00000417534.2:p.Leu223ThrfsTer20
ENST00000707188.1:c.391-1700_391-1699del (H2BC4)	ENSP00000516775.1:n.391-1700_391-1699del
ENST00000357618.10:c.667_668del (HFE) MANE Select	ENSP00000417404.1:p.Leu223ThrfsTer20
ENST00000309234.10:c.667_668del (HFE)	ENSP00000311698.6:p.Leu223ThrfsTer20
ENST00000317896.11:c.391_392del (HFE)	ENSP00000313776.7:p.Leu131ThrfsTer20
ENST00000336625.12:c.349_350del (HFE)	ENSP00000337819.8:p.Leu117ThrfsTer20
ENST00000349999.8:c.403_404del (HFE)	ENSP00000259699.6:p.Leu135ThrfsTer20
ENST00000352392.8:c.77-384_77-383del (HFE)	ENSP00000315936.4:n.77-384_77-383del
ENST00000353147.9:c.127_128del (HFE)	ENSP00000312342.5:p.Leu43ThrfsTer20
ENST00000357618.9:c.667_668del (HFE)	ENSP00000417404.1:p.Leu223ThrfsTer20
ENST00000397022.7:c.598_599del (HFE)	ENSP00000380217.3:p.Leu200ThrfsTer20
ENST00000461397.5:c.625_626del (HFE)	ENSP00000420802.1:p.Leu209ThrfsTer20
ENST00000470149.5:c.658_659del (HFE)	ENSP00000419725.1:p.Leu220ThrfsTer20
ENST00000483782.1:n.998_999del (HFE)
ENST00000486147.1:n.510_511del (HFE)
ENST00000488199.5:c.361_362del (HFE)	ENSP00000420559.1:p.Leu121ThrfsTer20
ENST00000629531.1:c.132+31039_132+31040del (H2BC3)	ENSP00000486472.1:n.132+31039_132+31040del
NM_000410.3:c.667_668del , LRG_748t1:c.667_668del (HFE)	NP_000401.1:p.Leu223ThrfsTer20
NM_001300749.1:c.667_668del (HFE)	NP_001287678.1:p.Leu223ThrfsTer20
NM_139003.2:c.349_350del (HFE)	NP_620572.1:p.Leu117ThrfsTer20
NM_139004.2:c.391_392del (HFE)	NP_620573.1:p.Leu131ThrfsTer20
NM_139006.2:c.625_626del (HFE)	NP_620575.1:p.Leu209ThrfsTer20
NM_139007.2:c.403_404del (HFE)	NP_620576.1:p.Leu135ThrfsTer20
NM_139008.2:c.361_362del (HFE)	NP_620577.1:p.Leu121ThrfsTer20
NM_139009.2:c.598_599del (HFE)	NP_620578.1:p.Leu200ThrfsTer20
NM_139010.2:c.127_128del (HFE)	NP_620579.1:p.Leu43ThrfsTer20
NM_139011.2:c.77-384_77-383del (HFE)	NP_620580.1:n.77-384_77-383del
XM_011514543.1:c.667_668del (HFE)	XP_011512845.1:p.Leu223ThrfsTer20
XM_011514544.1:c.658_659del (HFE)	XP_011512846.1:p.Leu220ThrfsTer20
XR_241893.2:n.789_790del (HFE)
XM_011514543.3:c.667_668del (HFE)	XP_011512845.1:p.Leu223ThrfsTer20
XR_241893.4:n.761_762del (HFE)
NM_001300749.2:c.667_668del (HFE)	NP_001287678.1:p.Leu223ThrfsTer20
NM_139003.3:c.349_350del (HFE)	NP_620572.1:p.Leu117ThrfsTer20
NM_139004.3:c.391_392del (HFE)	NP_620573.1:p.Leu131ThrfsTer20
NM_139006.3:c.625_626del (HFE)	NP_620575.1:p.Leu209ThrfsTer20
NM_139007.3:c.403_404del (HFE)	NP_620576.1:p.Leu135ThrfsTer20
NM_139008.3:c.361_362del (HFE)	NP_620577.1:p.Leu121ThrfsTer20
NM_139009.3:c.598_599del (HFE)	NP_620578.1:p.Leu200ThrfsTer20
NM_139010.3:c.127_128del (HFE)	NP_620579.1:p.Leu43ThrfsTer20
NM_139011.3:c.77-384_77-383del (HFE)	NP_620580.1:n.77-384_77-383del
NM_000410.4:c.667_668del (HFE) MANE Select	NP_000401.1:p.Leu223ThrfsTer20
NM_001384164.1:c.667_668del (HFE)	NP_001371093.1:p.Leu223ThrfsTer20