Canonical Allele Identifier: CA1229580748
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241508878_241508882delinsCAACT , CM000663.2:g.241508878_241508882delinsCAACT GRCh38
NC_000001.10:g.241672178_241672182delinsCAACT , CM000663.1:g.241672178_241672182delinsCAACT GRCh37
NC_000001.9:g.239738801_239738805delinsCAACT NCBI36
NG_012338.1:g.15873_15877delinsAGTTG , LRG_504:g.15873_15877delinsAGTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1059-97_1059-93delinsAGTTG
ENST00000682162.1:c.585-97_585-93delinsAGTTG ENSP00000508203.1:n.585-97_585-93delinsAGTTG
ENST00000682567.1:n.633-97_633-93delinsAGTTG
ENST00000683521.1:c.556-97_556-93delinsAGTTG ENSP00000506864.1:n.556-97_556-93delinsAGTTG
ENST00000684161.1:n.1674_1678delinsAGTTG
ENST00000684483.1:c.556-122_556-118delinsAGTTG ENSP00000507894.1:n.556-122_556-118delinsAGTTG
ENST00000366560.4:c.556-97_556-93delinsAGTTG MANE Select ENSP00000355518.4:n.556-97_556-93delinsAGTTG
ENST00000366560.3:c.556-97_556-93delinsAGTTG ENSP00000355518.3:n.556-97_556-93delinsAGTTG
NM_000143.3:c.556-97_556-93delinsAGTTG , LRG_504t1:c.556-97_556-93delinsAGTTG NP_000134.2:n.556-97_556-93delinsAGTTG
XM_011544132.1:c.328-97_328-93delinsAGTTG XP_011542434.1:n.328-97_328-93delinsAGTTG
XM_011544132.2:c.328-97_328-93delinsAGTTG XP_011542434.1:n.328-97_328-93delinsAGTTG
NM_000143.4:c.556-97_556-93delinsAGTTG MANE Select NP_000134.2:n.556-97_556-93delinsAGTTG