Canonical Allele Identifier: CA1229578173
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241502566_241502567delinsCT , CM000663.2:g.241502566_241502567delinsCT GRCh38
NC_000001.10:g.241665866_241665867delinsCT , CM000663.1:g.241665866_241665867delinsCT GRCh37
NC_000001.9:g.239732489_239732490delinsCT NCBI36
NG_012338.1:g.22188_22189delinsAG , LRG_504:g.22188_22189delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1615_1616delinsAG
ENST00000682162.1:c.1141_1142delinsAG ENSP00000508203.1:n.1141_1142delinsAG
ENST00000682567.1:n.2660_2661delinsAG
ENST00000683521.1:c.1112_1113delinsAG ENSP00000506864.1:p.Lys371=
ENST00000684161.1:n.2327_2328delinsAG
ENST00000684483.1:c.*508_*509delinsAG ENSP00000507894.1:n.*508_*509delinsAG
ENST00000366560.4:c.1112_1113delinsAG MANE Select ENSP00000355518.4:p.Lys371=
ENST00000366560.3:c.1112_1113delinsAG ENSP00000355518.3:p.Lys371=
NM_000143.3:c.1112_1113delinsAG , LRG_504t1:c.1112_1113delinsAG NP_000134.2:p.Lys371=
XM_011544132.1:c.884_885delinsAG XP_011542434.1:p.Lys295=
XM_011544132.2:c.884_885delinsAG XP_011542434.1:p.Lys295=
NM_000143.4:c.1112_1113delinsAG MANE Select NP_000134.2:p.Lys371=