Canonical Allele Identifier: CA1229578890
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504310_241504311delinsCA , CM000663.2:g.241504310_241504311delinsCA GRCh38
NC_000001.10:g.241667610_241667611delinsCA , CM000663.1:g.241667610_241667611delinsCA GRCh37
NC_000001.9:g.239734233_239734234delinsCA NCBI36
NG_012338.1:g.20444_20445delinsTG , LRG_504:g.20444_20445delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1408-66_1408-65delinsTG
ENST00000682162.1:c.934-66_934-65delinsTG ENSP00000508203.1:n.934-66_934-65delinsTG
ENST00000682567.1:n.982-66_982-65delinsTG
ENST00000683521.1:c.905-66_905-65delinsTG ENSP00000506864.1:n.905-66_905-65delinsTG
ENST00000684161.1:n.2120-66_2120-65delinsTG
ENST00000684483.1:c.*301-66_*301-65delinsTG ENSP00000507894.1:n.*301-66_*301-65delinsTG
ENST00000366560.4:c.905-66_905-65delinsTG MANE Select ENSP00000355518.4:n.905-66_905-65delinsTG
ENST00000366560.3:c.905-66_905-65delinsTG ENSP00000355518.3:n.905-66_905-65delinsTG
NM_000143.3:c.905-66_905-65delinsTG , LRG_504t1:c.905-66_905-65delinsTG NP_000134.2:n.905-66_905-65delinsTG
XM_011544132.1:c.677-66_677-65delinsTG XP_011542434.1:n.677-66_677-65delinsTG
XM_011544132.2:c.677-66_677-65delinsTG XP_011542434.1:n.677-66_677-65delinsTG
NM_000143.4:c.905-66_905-65delinsTG MANE Select NP_000134.2:n.905-66_905-65delinsTG