Canonical Allele Identifier: CA2573335077

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504159_241504178del , CM000663.2:g.241504159_241504178del	GRCh38
NC_000001.10:g.241667459_241667478del , CM000663.1:g.241667459_241667478del	GRCh37
NC_000001.9:g.239734082_239734101del	NCBI36
NG_012338.1:g.20578_20597del , LRG_504:g.20578_20597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1476_1495del
ENST00000682162.1:c.1002_1021del	ENSP00000508203.1:n.1002_1021del
ENST00000682567.1:n.1050_1069del
ENST00000683521.1:c.973_992del	ENSP00000506864.1:p.Ser325CysfsTer10
ENST00000684161.1:n.2188_2207del
ENST00000684483.1:c.*369_*388del	ENSP00000507894.1:n.*369_*388del
ENST00000366560.4:c.973_992del MANE Select	ENSP00000355518.4:p.Ser325CysfsTer10
ENST00000366560.3:c.973_992del	ENSP00000355518.3:p.Ser325CysfsTer10
NM_000143.3:c.973_992del , LRG_504t1:c.973_992del	NP_000134.2:p.Ser325CysfsTer10
XM_011544132.1:c.745_764del	XP_011542434.1:p.Ser249CysfsTer10
XM_011544132.2:c.745_764del	XP_011542434.1:p.Ser249CysfsTer10
NM_000143.4:c.973_992del MANE Select	NP_000134.2:p.Ser325CysfsTer10