Canonical Allele Identifier: CA320029
Gene: FH HGNC NCBI

Linked Data

dbSNP Id: rs863223995

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241512128_241512132del , CM000663.2:g.241512128_241512132del GRCh38
NC_000001.10:g.241675428_241675432del , CM000663.1:g.241675428_241675432del GRCh37
NC_000001.9:g.239742051_239742055del NCBI36
NG_012338.1:g.12628_12632del , LRG_504:g.12628_12632del

Transcript Alleles

HGVS Amino-acid change
ENST00000493477.2:n.898_902del
ENST00000682162.1:c.424_428del ENSP00000508203.1:n.424_428del
ENST00000682567.1:n.472_476del
ENST00000683521.1:c.395_399del ENSP00000506864.1:p.Leu132Ter
ENST00000684483.1:c.395_399del ENSP00000507894.1:p.Leu132Ter
ENST00000366560.4:c.395_399del MANE Select ENSP00000355518.4:p.Leu132Ter
ENST00000366560.3:c.395_399del ENSP00000355518.3:p.Leu132Ter
ENST00000497042.1:n.91_95del
NM_000143.3:c.395_399del , LRG_504t1:c.395_399del NP_000134.2:p.Leu132Ter
XM_011544132.1:c.167_171del XP_011542434.1:p.Leu56Ter
XM_011544132.2:c.167_171del XP_011542434.1:p.Leu56Ter
NM_000143.4:c.395_399del MANE Select NP_000134.2:p.Leu132Ter