Canonical Allele Identifier: CA2574453737
Gene: FH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241504251_241504253del , CM000663.2:g.241504251_241504253del GRCh38
NC_000001.10:g.241667551_241667553del , CM000663.1:g.241667551_241667553del GRCh37
NC_000001.9:g.239734174_239734176del NCBI36
NG_012338.1:g.20504_20506del , LRG_504:g.20504_20506del

Transcript Alleles

HGVS Amino-acid Change
ENST00000493477.2:n.1408-6_1408-4del
ENST00000682162.1:c.934-6_934-4del ENSP00000508203.1:n.934-6_934-4del
ENST00000682567.1:n.982-6_982-4del
ENST00000683521.1:c.905-6_905-4del ENSP00000506864.1:n.905-6_905-4del
ENST00000684161.1:n.2120-6_2120-4del
ENST00000684483.1:c.*301-6_*301-4del ENSP00000507894.1:n.*301-6_*301-4del
ENST00000366560.4:c.905-6_905-4del MANE Select ENSP00000355518.4:n.905-6_905-4del
ENST00000366560.3:c.905-6_905-4del ENSP00000355518.3:n.905-6_905-4del
NM_000143.3:c.905-6_905-4del , LRG_504t1:c.905-6_905-4del NP_000134.2:n.905-6_905-4del
XM_011544132.1:c.677-6_677-4del XP_011542434.1:n.677-6_677-4del
XM_011544132.2:c.677-6_677-4del XP_011542434.1:n.677-6_677-4del
NM_000143.4:c.905-6_905-4del MANE Select NP_000134.2:n.905-6_905-4del