Canonical Allele Identifier: CA2651255358
Gene: FH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512271_241512273del , CM000663.2:g.241512271_241512273del GRCh38
NC_000001.10:g.241675571_241675573del , CM000663.1:g.241675571_241675573del GRCh37
NC_000001.9:g.239742194_239742196del NCBI36
NG_012338.1:g.12482_12484del , LRG_504:g.12482_12484del

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.882-130_882-128del
ENST00000682162.1:c.408-130_408-128del ENSP00000508203.1:n.408-130_408-128del
ENST00000682567.1:n.456-130_456-128del
ENST00000683521.1:c.379-130_379-128del ENSP00000506864.1:n.379-130_379-128del
ENST00000684483.1:c.379-130_379-128del ENSP00000507894.1:n.379-130_379-128del
ENST00000366560.4:c.379-130_379-128del MANE Select ENSP00000355518.4:n.379-130_379-128del
ENST00000366560.3:c.379-130_379-128del ENSP00000355518.3:n.379-130_379-128del
ENST00000497042.1:n.75-130_75-128del
NM_000143.3:c.379-130_379-128del , LRG_504t1:c.379-130_379-128del NP_000134.2:n.379-130_379-128del
XM_011544132.1:c.151-130_151-128del XP_011542434.1:n.151-130_151-128del
XM_011544132.2:c.151-130_151-128del XP_011542434.1:n.151-130_151-128del
NM_000143.4:c.379-130_379-128del MANE Select NP_000134.2:n.379-130_379-128del