Canonical Allele Identifier: CA2748368256
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504283_241504284insGAC , CM000663.2:g.241504283_241504284insGAC GRCh38
NC_000001.10:g.241667583_241667584insGAC , CM000663.1:g.241667583_241667584insGAC GRCh37
NC_000001.9:g.239734206_239734207insGAC NCBI36
NG_012338.1:g.20471_20472insGTC , LRG_504:g.20471_20472insGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1408-39_1408-38insGTC
ENST00000682162.1:c.934-39_934-38insGTC ENSP00000508203.1:n.934-39_934-38insGTC
ENST00000682567.1:n.982-39_982-38insGTC
ENST00000683521.1:c.905-39_905-38insGTC ENSP00000506864.1:n.905-39_905-38insGTC
ENST00000684161.1:n.2120-39_2120-38insGTC
ENST00000684483.1:c.*301-39_*301-38insGTC ENSP00000507894.1:n.*301-39_*301-38insGTC
ENST00000366560.4:c.905-39_905-38insGTC MANE Select ENSP00000355518.4:n.905-39_905-38insGTC
ENST00000366560.3:c.905-39_905-38insGTC ENSP00000355518.3:n.905-39_905-38insGTC
NM_000143.3:c.905-39_905-38insGTC , LRG_504t1:c.905-39_905-38insGTC NP_000134.2:n.905-39_905-38insGTC
XM_011544132.1:c.677-39_677-38insGTC XP_011542434.1:n.677-39_677-38insGTC
XM_011544132.2:c.677-39_677-38insGTC XP_011542434.1:n.677-39_677-38insGTC
NM_000143.4:c.905-39_905-38insGTC MANE Select NP_000134.2:n.905-39_905-38insGTC