Canonical Allele Identifier: CA2748368427
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512288_241512289del , CM000663.2:g.241512288_241512289del GRCh38
NC_000001.10:g.241675588_241675589del , CM000663.1:g.241675588_241675589del GRCh37
NC_000001.9:g.239742211_239742212del NCBI36
NG_012338.1:g.12466_12467del , LRG_504:g.12466_12467del

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.882-146_882-145del
ENST00000682162.1:c.408-146_408-145del ENSP00000508203.1:n.408-146_408-145del
ENST00000682567.1:n.456-146_456-145del
ENST00000683521.1:c.379-146_379-145del ENSP00000506864.1:n.379-146_379-145del
ENST00000684483.1:c.379-146_379-145del ENSP00000507894.1:n.379-146_379-145del
ENST00000366560.4:c.379-146_379-145del MANE Select ENSP00000355518.4:n.379-146_379-145del
ENST00000366560.3:c.379-146_379-145del ENSP00000355518.3:n.379-146_379-145del
ENST00000497042.1:n.75-146_75-145del
NM_000143.3:c.379-146_379-145del , LRG_504t1:c.379-146_379-145del NP_000134.2:n.379-146_379-145del
XM_011544132.1:c.151-146_151-145del XP_011542434.1:n.151-146_151-145del
XM_011544132.2:c.151-146_151-145del XP_011542434.1:n.151-146_151-145del
NM_000143.4:c.379-146_379-145del MANE Select NP_000134.2:n.379-146_379-145del