Canonical Allele Identifier: CA1229582151
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512262_241512264delinsCCA , CM000663.2:g.241512262_241512264delinsCCA GRCh38
NC_000001.10:g.241675562_241675564delinsCCA , CM000663.1:g.241675562_241675564delinsCCA GRCh37
NC_000001.9:g.239742185_239742187delinsCCA NCBI36
NG_012338.1:g.12491_12493delinsTGG , LRG_504:g.12491_12493delinsTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.882-121_882-119delinsTGG
ENST00000682162.1:c.408-121_408-119delinsTGG ENSP00000508203.1:n.408-121_408-119delinsTGG
ENST00000682567.1:n.456-121_456-119delinsTGG
ENST00000683521.1:c.379-121_379-119delinsTGG ENSP00000506864.1:n.379-121_379-119delinsTGG
ENST00000684483.1:c.379-121_379-119delinsTGG ENSP00000507894.1:n.379-121_379-119delinsTGG
ENST00000366560.4:c.379-121_379-119delinsTGG MANE Select ENSP00000355518.4:n.379-121_379-119delinsTGG
ENST00000366560.3:c.379-121_379-119delinsTGG ENSP00000355518.3:n.379-121_379-119delinsTGG
ENST00000497042.1:n.75-121_75-119delinsTGG
NM_000143.3:c.379-121_379-119delinsTGG , LRG_504t1:c.379-121_379-119delinsTGG NP_000134.2:n.379-121_379-119delinsTGG
XM_011544132.1:c.151-121_151-119delinsTGG XP_011542434.1:n.151-121_151-119delinsTGG
XM_011544132.2:c.151-121_151-119delinsTGG XP_011542434.1:n.151-121_151-119delinsTGG
NM_000143.4:c.379-121_379-119delinsTGG MANE Select NP_000134.2:n.379-121_379-119delinsTGG