Canonical Allele Identifier: CA2574453749
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504307del , CM000663.2:g.241504307del GRCh38
NC_000001.10:g.241667607del , CM000663.1:g.241667607del GRCh37
NC_000001.9:g.239734230del NCBI36
NG_012338.1:g.20449del , LRG_504:g.20449del

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1408-61del
ENST00000682162.1:c.934-61del ENSP00000508203.1:n.934-61del
ENST00000682567.1:n.982-61del
ENST00000683521.1:c.905-61del ENSP00000506864.1:n.905-61del
ENST00000684161.1:n.2120-61del
ENST00000684483.1:c.*301-61del ENSP00000507894.1:n.*301-61del
ENST00000366560.4:c.905-61del MANE Select ENSP00000355518.4:n.905-61del
ENST00000366560.3:c.905-61del ENSP00000355518.3:n.905-61del
NM_000143.3:c.905-61del , LRG_504t1:c.905-61del NP_000134.2:n.905-61del
XM_011544132.1:c.677-61del XP_011542434.1:n.677-61del
XM_011544132.2:c.677-61del XP_011542434.1:n.677-61del
NM_000143.4:c.905-61del MANE Select NP_000134.2:n.905-61del