Canonical Allele Identifier: CA2499347135

Gene: FH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511762_241511763insAT , CM000663.2:g.241511762_241511763insAT	GRCh38
NC_000001.10:g.241675062_241675063insAT , CM000663.1:g.241675062_241675063insAT	GRCh37
NC_000001.9:g.239741685_239741686insAT	NCBI36
NG_012338.1:g.12992_12993insAT , LRG_504:g.12992_12993insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+204_1058+205insAT
ENST00000682162.1:c.584+204_584+205insAT	ENSP00000508203.1:n.584+204_584+205insAT
ENST00000682567.1:n.632+204_632+205insAT
ENST00000683521.1:c.555+204_555+205insAT	ENSP00000506864.1:n.555+204_555+205insAT
ENST00000684483.1:c.555+204_555+205insAT	ENSP00000507894.1:n.555+204_555+205insAT
ENST00000366560.4:c.555+204_555+205insAT MANE Select	ENSP00000355518.4:n.555+204_555+205insAT
ENST00000366560.3:c.555+204_555+205insAT	ENSP00000355518.3:n.555+204_555+205insAT
NM_000143.3:c.555+204_555+205insAT , LRG_504t1:c.555+204_555+205insAT	NP_000134.2:n.555+204_555+205insAT
XM_011544132.1:c.327+204_327+205insAT	XP_011542434.1:n.327+204_327+205insAT
XM_011544132.2:c.327+204_327+205insAT	XP_011542434.1:n.327+204_327+205insAT
NM_000143.4:c.555+204_555+205insAT MANE Select	NP_000134.2:n.555+204_555+205insAT