Canonical Allele Identifier: CA1229580756
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508901_241508903delinsTCA , CM000663.2:g.241508901_241508903delinsTCA GRCh38
NC_000001.10:g.241672201_241672203delinsTCA , CM000663.1:g.241672201_241672203delinsTCA GRCh37
NC_000001.9:g.239738824_239738826delinsTCA NCBI36
NG_012338.1:g.15852_15854delinsTGA , LRG_504:g.15852_15854delinsTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1059-118_1059-116delinsTGA
ENST00000682162.1:c.585-118_585-116delinsTGA ENSP00000508203.1:n.585-118_585-116delinsTGA
ENST00000682567.1:n.633-118_633-116delinsTGA
ENST00000683521.1:c.556-118_556-116delinsTGA ENSP00000506864.1:n.556-118_556-116delinsTGA
ENST00000684161.1:n.1653_1655delinsTGA
ENST00000684483.1:c.556-143_556-141delinsTGA ENSP00000507894.1:n.556-143_556-141delinsTGA
ENST00000366560.4:c.556-118_556-116delinsTGA MANE Select ENSP00000355518.4:n.556-118_556-116delinsTGA
ENST00000366560.3:c.556-118_556-116delinsTGA ENSP00000355518.3:n.556-118_556-116delinsTGA
NM_000143.3:c.556-118_556-116delinsTGA , LRG_504t1:c.556-118_556-116delinsTGA NP_000134.2:n.556-118_556-116delinsTGA
XM_011544132.1:c.328-118_328-116delinsTGA XP_011542434.1:n.328-118_328-116delinsTGA
XM_011544132.2:c.328-118_328-116delinsTGA XP_011542434.1:n.328-118_328-116delinsTGA
NM_000143.4:c.556-118_556-116delinsTGA MANE Select NP_000134.2:n.556-118_556-116delinsTGA