Canonical Allele Identifier: CA2651255256

Gene: FH

Linked Data

• gnomAD v4: 1-241511866-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511867_241511868del , CM000663.2:g.241511867_241511868del	GRCh38
NC_000001.10:g.241675167_241675168del , CM000663.1:g.241675167_241675168del	GRCh37
NC_000001.9:g.239741790_239741791del	NCBI36
NG_012338.1:g.12887_12888del , LRG_504:g.12887_12888del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+99_1058+100del
ENST00000682162.1:c.584+99_584+100del	ENSP00000508203.1:n.584+99_584+100del
ENST00000682567.1:n.632+99_632+100del
ENST00000683521.1:c.555+99_555+100del	ENSP00000506864.1:n.555+99_555+100del
ENST00000684483.1:c.555+99_555+100del	ENSP00000507894.1:n.555+99_555+100del
ENST00000366560.4:c.555+99_555+100del MANE Select	ENSP00000355518.4:n.555+99_555+100del
ENST00000366560.3:c.555+99_555+100del	ENSP00000355518.3:n.555+99_555+100del
ENST00000497042.1:n.350_351del
NM_000143.3:c.555+99_555+100del , LRG_504t1:c.555+99_555+100del	NP_000134.2:n.555+99_555+100del
XM_011544132.1:c.327+99_327+100del	XP_011542434.1:n.327+99_327+100del
XM_011544132.2:c.327+99_327+100del	XP_011542434.1:n.327+99_327+100del
NM_000143.4:c.555+99_555+100del MANE Select	NP_000134.2:n.555+99_555+100del