Canonical Allele Identifier: CA1229578161

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502536_241502540delinsGGTCA , CM000663.2:g.241502536_241502540delinsGGTCA	GRCh38
NC_000001.10:g.241665836_241665840delinsGGTCA , CM000663.1:g.241665836_241665840delinsGGTCA	GRCh37
NC_000001.9:g.239732459_239732463delinsGGTCA	NCBI36
NG_012338.1:g.22215_22219delinsTGACC , LRG_504:g.22215_22219delinsTGACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1642_1646delinsTGACC
ENST00000682162.1:c.1168_1172delinsTGACC	ENSP00000508203.1:n.1168_1172delinsTGACC
ENST00000682567.1:n.2687_2691delinsTGACC
ENST00000683521.1:c.1139_1143delinsTGACC	ENSP00000506864.1:p.Met380=
ENST00000684161.1:n.2354_2358delinsTGACC
ENST00000684483.1:c.*535_*539delinsTGACC	ENSP00000507894.1:n.*535_*539delinsTGACC
ENST00000366560.4:c.1139_1143delinsTGACC MANE Select	ENSP00000355518.4:p.Met380=
ENST00000366560.3:c.1139_1143delinsTGACC	ENSP00000355518.3:p.Met380=
NM_000143.3:c.1139_1143delinsTGACC , LRG_504t1:c.1139_1143delinsTGACC	NP_000134.2:p.Met380=
XM_011544132.1:c.911_915delinsTGACC	XP_011542434.1:p.Met304=
XM_011544132.2:c.911_915delinsTGACC	XP_011542434.1:p.Met304=
NM_000143.4:c.1139_1143delinsTGACC MANE Select	NP_000134.2:p.Met380=