Canonical Allele Identifier: CA2574470532
Gene: FH HGNC NCBI

Linked Data

dbSNP Id: rs2147922081

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512188_241512190del , CM000663.2:g.241512188_241512190del GRCh38
NC_000001.10:g.241675488_241675490del , CM000663.1:g.241675488_241675490del GRCh37
NC_000001.9:g.239742111_239742113del NCBI36
NG_012338.1:g.12571_12573del , LRG_504:g.12571_12573del

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.882-41_882-39del
ENST00000682162.1:c.408-41_408-39del ENSP00000508203.1:n.408-41_408-39del
ENST00000682567.1:n.456-41_456-39del
ENST00000683521.1:c.379-41_379-39del ENSP00000506864.1:n.379-41_379-39del
ENST00000684483.1:c.379-41_379-39del ENSP00000507894.1:n.379-41_379-39del
ENST00000366560.4:c.379-41_379-39del MANE Select ENSP00000355518.4:n.379-41_379-39del
ENST00000366560.3:c.379-41_379-39del ENSP00000355518.3:n.379-41_379-39del
ENST00000497042.1:n.75-41_75-39del
NM_000143.3:c.379-41_379-39del , LRG_504t1:c.379-41_379-39del NP_000134.2:n.379-41_379-39del
XM_011544132.1:c.151-41_151-39del XP_011542434.1:n.151-41_151-39del
XM_011544132.2:c.151-41_151-39del XP_011542434.1:n.151-41_151-39del
NM_000143.4:c.379-41_379-39del MANE Select NP_000134.2:n.379-41_379-39del