Canonical Allele Identifier: CA136289515
Gene: H2BC4 HGNC NCBI
HFE HGNC NCBI
H2BC3 HGNC NCBI
HFE-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1022650703
gnomAD v3: 6-26087363-C-CT
gnomAD v4: 6-26087363-C-CT
MyVariant Identifiers: chr6:g.26087591_26087592insT (hg19) chr6:g.26087363_26087364insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.26087365dup , CM000668.2:g.26087365dup GRCh38
NC_000006.11:g.26087593dup , CM000668.1:g.26087593dup GRCh37
NC_000006.10:g.26195572dup NCBI36
NG_008720.2:g.5085dup , LRG_748:g.5085dup

Transcript Alleles

HGVS Amino-acid change
ENST00000707188.1:c.1501dup (H2BC4) ENSP00000516775.1:n.1501dup
ENST00000317896.11:c.-76dup (HFE) ENSP00000313776.7:n.-76dup
ENST00000349999.8:c.-76dup (HFE) ENSP00000259699.6:n.-76dup
ENST00000352392.8:c.-76dup (HFE) ENSP00000315936.4:n.-76dup
ENST00000353147.9:c.-76dup (HFE) ENSP00000312342.5:n.-76dup
ENST00000357618.9:c.-76dup (HFE) ENSP00000417404.1:n.-76dup
ENST00000397022.7:c.-76dup (HFE) ENSP00000380217.3:n.-76dup
ENST00000483782.1:n.47dup (HFE)
ENST00000629531.1:c.132+36409dup (H2BC3) ENSP00000486472.1:n.132+36409dup
NM_000410.3:c.-76dup , LRG_748t1:c.-76dup (HFE) NP_000401.1:n.-76dup
NM_001300749.1:c.-76dup (HFE) NP_001287678.1:n.-76dup
NM_139003.2:c.-76dup (HFE) NP_620572.1:n.-76dup
NM_139004.2:c.-76dup (HFE) NP_620573.1:n.-76dup
NM_139006.2:c.-76dup (HFE) NP_620575.1:n.-76dup
NM_139007.2:c.-76dup (HFE) NP_620576.1:n.-76dup
NM_139008.2:c.-76dup (HFE) NP_620577.1:n.-76dup
NM_139009.2:c.-76dup (HFE) NP_620578.1:n.-76dup
NM_139010.2:c.-76dup (HFE) NP_620579.1:n.-76dup
NM_139011.2:c.-76dup (HFE) NP_620580.1:n.-76dup
XM_011514543.1:c.-76dup (HFE) XP_011512845.1:n.-76dup
XM_011514544.1:c.-76dup (HFE) XP_011512846.1:n.-76dup
XR_241893.2:n.47dup (HFE)
NR_144383.1:n.1111dup (HFE-AS1)
XM_011514543.3:c.-76dup (HFE) XP_011512845.1:n.-76dup
XR_241893.4:n.19dup (HFE)
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