Canonical Allele Identifier: CA2677605430

Gene: HFE H2BC4 H2BC3

Linked Data

• gnomAD v4: 6-26092577-TGAAAAGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26092578_26092585del , CM000668.2:g.26092578_26092585del	GRCh38
NC_000006.11:g.26092806_26092813del , CM000668.1:g.26092806_26092813del	GRCh37
NC_000006.10:g.26200785_26200792del	NCBI36
NG_008720.2:g.10298_10305del , LRG_748:g.10298_10305del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485729.2:c.617-107_617-100del (HFE)	ENSP00000417534.2:n.617-107_617-100del
ENST00000707188.1:c.391-1551_391-1544del (H2BC4)	ENSP00000516775.1:n.391-1551_391-1544del
ENST00000357618.10:c.617-107_617-100del (HFE) MANE Select	ENSP00000417404.1:n.617-107_617-100del
ENST00000309234.10:c.617-107_617-100del (HFE)	ENSP00000311698.6:n.617-107_617-100del
ENST00000317896.11:c.341-107_341-100del (HFE)	ENSP00000313776.7:n.341-107_341-100del
ENST00000336625.12:c.341-149_341-142del (HFE)	ENSP00000337819.8:n.341-149_341-142del
ENST00000349999.8:c.353-107_353-100del (HFE)	ENSP00000259699.6:n.353-107_353-100del
ENST00000352392.8:c.77-541_77-534del (HFE)	ENSP00000315936.4:n.77-541_77-534del
ENST00000353147.9:c.77-107_77-100del (HFE)	ENSP00000312342.5:n.77-107_77-100del
ENST00000357618.9:c.617-107_617-100del (HFE)	ENSP00000417404.1:n.617-107_617-100del
ENST00000397022.7:c.548-107_548-100del (HFE)	ENSP00000380217.3:n.548-107_548-100del
ENST00000461397.5:c.617-149_617-142del (HFE)	ENSP00000420802.1:n.617-149_617-142del
ENST00000470149.5:c.617-31_617-24del (HFE)	ENSP00000419725.1:n.617-31_617-24del
ENST00000483782.1:n.948-107_948-100del (HFE)
ENST00000486147.1:n.384-31_384-24del (HFE)
ENST00000488199.5:c.353-149_353-142del (HFE)	ENSP00000420559.1:n.353-149_353-142del
ENST00000629531.1:c.132+31188_132+31195del (H2BC3)	ENSP00000486472.1:n.132+31188_132+31195del
NM_000410.3:c.617-107_617-100del , LRG_748t1:c.617-107_617-100del (HFE)	NP_000401.1:n.617-107_617-100del
NM_001300749.1:c.617-107_617-100del (HFE)	NP_001287678.1:n.617-107_617-100del
NM_139003.2:c.341-149_341-142del (HFE)	NP_620572.1:n.341-149_341-142del
NM_139004.2:c.341-107_341-100del (HFE)	NP_620573.1:n.341-107_341-100del
NM_139006.2:c.617-149_617-142del (HFE)	NP_620575.1:n.617-149_617-142del
NM_139007.2:c.353-107_353-100del (HFE)	NP_620576.1:n.353-107_353-100del
NM_139008.2:c.353-149_353-142del (HFE)	NP_620577.1:n.353-149_353-142del
NM_139009.2:c.548-107_548-100del (HFE)	NP_620578.1:n.548-107_548-100del
NM_139010.2:c.77-107_77-100del (HFE)	NP_620579.1:n.77-107_77-100del
NM_139011.2:c.77-541_77-534del (HFE)	NP_620580.1:n.77-541_77-534del
XM_011514543.1:c.617-107_617-100del (HFE)	XP_011512845.1:n.617-107_617-100del
XM_011514544.1:c.617-31_617-24del (HFE)	XP_011512846.1:n.617-31_617-24del
XR_241893.2:n.739-107_739-100del (HFE)
XM_011514543.3:c.617-107_617-100del (HFE)	XP_011512845.1:n.617-107_617-100del
XR_241893.4:n.711-107_711-100del (HFE)
NM_001300749.2:c.617-107_617-100del (HFE)	NP_001287678.1:n.617-107_617-100del
NM_139003.3:c.341-149_341-142del (HFE)	NP_620572.1:n.341-149_341-142del
NM_139004.3:c.341-107_341-100del (HFE)	NP_620573.1:n.341-107_341-100del
NM_139006.3:c.617-149_617-142del (HFE)	NP_620575.1:n.617-149_617-142del
NM_139007.3:c.353-107_353-100del (HFE)	NP_620576.1:n.353-107_353-100del
NM_139008.3:c.353-149_353-142del (HFE)	NP_620577.1:n.353-149_353-142del
NM_139009.3:c.548-107_548-100del (HFE)	NP_620578.1:n.548-107_548-100del
NM_139010.3:c.77-107_77-100del (HFE)	NP_620579.1:n.77-107_77-100del
NM_139011.3:c.77-541_77-534del (HFE)	NP_620580.1:n.77-541_77-534del
NM_000410.4:c.617-107_617-100del (HFE) MANE Select	NP_000401.1:n.617-107_617-100del
NM_001384164.1:c.617-107_617-100del (HFE)	NP_001371093.1:n.617-107_617-100del