Canonical Allele Identifier: CA1229578319
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502907_241502908delinsAG , CM000663.2:g.241502907_241502908delinsAG GRCh38
NC_000001.10:g.241666207_241666208delinsAG , CM000663.1:g.241666207_241666208delinsAG GRCh37
NC_000001.9:g.239732830_239732831delinsAG NCBI36
NG_012338.1:g.21847_21848delinsCT , LRG_504:g.21847_21848delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1612-338_1612-337delinsCT
ENST00000682162.1:c.1138-338_1138-337delinsCT ENSP00000508203.1:n.1138-338_1138-337delinsCT
ENST00000682567.1:n.2319_2320delinsCT
ENST00000683521.1:c.1109-338_1109-337delinsCT ENSP00000506864.1:n.1109-338_1109-337delinsCT
ENST00000684161.1:n.2324-338_2324-337delinsCT
ENST00000684483.1:c.*505-338_*505-337delinsCT ENSP00000507894.1:n.*505-338_*505-337delinsCT
ENST00000366560.4:c.1109-338_1109-337delinsCT MANE Select ENSP00000355518.4:n.1109-338_1109-337delinsCT
ENST00000366560.3:c.1109-338_1109-337delinsCT ENSP00000355518.3:n.1109-338_1109-337delinsCT
NM_000143.3:c.1109-338_1109-337delinsCT , LRG_504t1:c.1109-338_1109-337delinsCT NP_000134.2:n.1109-338_1109-337delinsCT
XM_011544132.1:c.881-338_881-337delinsCT XP_011542434.1:n.881-338_881-337delinsCT
XM_011544132.2:c.881-338_881-337delinsCT XP_011542434.1:n.881-338_881-337delinsCT
NM_000143.4:c.1109-338_1109-337delinsCT MANE Select NP_000134.2:n.1109-338_1109-337delinsCT