Canonical Allele Identifier: CA1616889944

Gene: HFE H2BC4 H2BC3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.26092890_26092891delinsTG , CM000668.2:g.26092890_26092891delinsTG	GRCh38
NC_000006.11:g.26093118_26093119delinsTG , CM000668.1:g.26093118_26093119delinsTG	GRCh37
NC_000006.10:g.26201097_26201098delinsTG	NCBI36
NG_008720.2:g.10610_10611delinsTG , LRG_748:g.10610_10611delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485729.2:c.822_823delinsTG (HFE)	ENSP00000417534.2:p.Pro274=
ENST00000707188.1:c.391-1857_391-1856delinsCA (H2BC4)	ENSP00000516775.1:n.391-1857_391-1856delinsCA
ENST00000357618.10:c.822_823delinsTG (HFE) MANE Select	ENSP00000417404.1:p.Pro274=
ENST00000309234.10:c.822_823delinsTG (HFE)	ENSP00000311698.6:p.Pro274=
ENST00000317896.11:c.546_547delinsTG (HFE)	ENSP00000313776.7:p.Pro182=
ENST00000336625.12:c.504_505delinsTG (HFE)	ENSP00000337819.8:p.Pro168=
ENST00000349999.8:c.558_559delinsTG (HFE)	ENSP00000259699.6:p.Pro186=
ENST00000352392.8:c.77-229_77-228delinsTG (HFE)	ENSP00000315936.4:n.77-229_77-228delinsTG
ENST00000353147.9:c.282_283delinsTG (HFE)	ENSP00000312342.5:p.Pro94=
ENST00000357618.9:c.822_823delinsTG (HFE)	ENSP00000417404.1:p.Pro274=
ENST00000397022.7:c.753_754delinsTG (HFE)	ENSP00000380217.3:p.Pro251=
ENST00000461397.5:c.780_781delinsTG (HFE)	ENSP00000420802.1:p.Pro260=
ENST00000470149.5:c.813_814delinsTG (HFE)	ENSP00000419725.1:p.Pro271=
ENST00000483782.1:n.1153_1154delinsTG (HFE)
ENST00000486147.1:n.665_666delinsTG (HFE)
ENST00000488199.5:c.516_517delinsTG (HFE)	ENSP00000420559.1:p.Pro172=
ENST00000629531.1:c.132+30882_132+30883delinsCA (H2BC3)	ENSP00000486472.1:n.132+30882_132+30883delinsCA
NM_000410.3:c.822_823delinsTG , LRG_748t1:c.822_823delinsTG (HFE)	NP_000401.1:p.Pro274=
NM_001300749.1:c.822_823delinsTG (HFE)	NP_001287678.1:p.Pro274=
NM_139003.2:c.504_505delinsTG (HFE)	NP_620572.1:p.Pro168=
NM_139004.2:c.546_547delinsTG (HFE)	NP_620573.1:p.Pro182=
NM_139006.2:c.780_781delinsTG (HFE)	NP_620575.1:p.Pro260=
NM_139007.2:c.558_559delinsTG (HFE)	NP_620576.1:p.Pro186=
NM_139008.2:c.516_517delinsTG (HFE)	NP_620577.1:p.Pro172=
NM_139009.2:c.753_754delinsTG (HFE)	NP_620578.1:p.Pro251=
NM_139010.2:c.282_283delinsTG (HFE)	NP_620579.1:p.Pro94=
NM_139011.2:c.77-229_77-228delinsTG (HFE)	NP_620580.1:n.77-229_77-228delinsTG
XM_011514543.1:c.822_823delinsTG (HFE)	XP_011512845.1:p.Pro274=
XM_011514544.1:c.813_814delinsTG (HFE)	XP_011512846.1:p.Pro271=
XR_241893.2:n.944_945delinsTG (HFE)
XM_011514543.3:c.822_823delinsTG (HFE)	XP_011512845.1:p.Pro274=
XR_241893.4:n.916_917delinsTG (HFE)
NM_001300749.2:c.822_823delinsTG (HFE)	NP_001287678.1:p.Pro274=
NM_139003.3:c.504_505delinsTG (HFE)	NP_620572.1:p.Pro168=
NM_139004.3:c.546_547delinsTG (HFE)	NP_620573.1:p.Pro182=
NM_139006.3:c.780_781delinsTG (HFE)	NP_620575.1:p.Pro260=
NM_139007.3:c.558_559delinsTG (HFE)	NP_620576.1:p.Pro186=
NM_139008.3:c.516_517delinsTG (HFE)	NP_620577.1:p.Pro172=
NM_139009.3:c.753_754delinsTG (HFE)	NP_620578.1:p.Pro251=
NM_139010.3:c.282_283delinsTG (HFE)	NP_620579.1:p.Pro94=
NM_139011.3:c.77-229_77-228delinsTG (HFE)	NP_620580.1:n.77-229_77-228delinsTG
NM_000410.4:c.822_823delinsTG (HFE) MANE Select	NP_000401.1:p.Pro274=
NM_001384164.1:c.822_823delinsTG (HFE)	NP_001371093.1:p.Pro274=