Canonical Allele Identifier: CA2586968553

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508651_241508653del , CM000663.2:g.241508651_241508653del	GRCh38
NC_000001.10:g.241671951_241671953del , CM000663.1:g.241671951_241671953del	GRCh37
NC_000001.9:g.239738574_239738576del	NCBI36
NG_012338.1:g.16103_16105del , LRG_504:g.16103_16105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1192_1194del
ENST00000682162.1:c.718_720del	ENSP00000508203.1:n.718_720del
ENST00000682567.1:n.766_768del
ENST00000683521.1:c.689_691del	ENSP00000506864.1:p.Lys230del
ENST00000684161.1:n.1904_1906del
ENST00000684483.1:c.*85_*87del	ENSP00000507894.1:n.*85_*87del
ENST00000366560.4:c.689_691del MANE Select	ENSP00000355518.4:p.Lys230del
ENST00000366560.3:c.689_691del	ENSP00000355518.3:p.Lys230del
NM_000143.3:c.689_691del , LRG_504t1:c.689_691del	NP_000134.2:p.Lys230del
XM_011544132.1:c.461_463del	XP_011542434.1:p.Lys154del
XM_011544132.2:c.461_463del	XP_011542434.1:p.Lys154del
NM_000143.4:c.689_691del MANE Select	NP_000134.2:p.Lys230del