Canonical Allele Identifier: CA2651255302
Gene: FH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512177_241512178del , CM000663.2:g.241512177_241512178del GRCh38
NC_000001.10:g.241675477_241675478del , CM000663.1:g.241675477_241675478del GRCh37
NC_000001.9:g.239742100_239742101del NCBI36
NG_012338.1:g.12581_12582del , LRG_504:g.12581_12582del

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.882-31_882-30del
ENST00000682162.1:c.408-31_408-30del ENSP00000508203.1:n.408-31_408-30del
ENST00000682567.1:n.456-31_456-30del
ENST00000683521.1:c.379-31_379-30del ENSP00000506864.1:n.379-31_379-30del
ENST00000684483.1:c.379-31_379-30del ENSP00000507894.1:n.379-31_379-30del
ENST00000366560.4:c.379-31_379-30del MANE Select ENSP00000355518.4:n.379-31_379-30del
ENST00000366560.3:c.379-31_379-30del ENSP00000355518.3:n.379-31_379-30del
ENST00000497042.1:n.75-31_75-30del
NM_000143.3:c.379-31_379-30del , LRG_504t1:c.379-31_379-30del NP_000134.2:n.379-31_379-30del
XM_011544132.1:c.151-31_151-30del XP_011542434.1:n.151-31_151-30del
XM_011544132.2:c.151-31_151-30del XP_011542434.1:n.151-31_151-30del
NM_000143.4:c.379-31_379-30del MANE Select NP_000134.2:n.379-31_379-30del