Canonical Allele Identifier: CA2651255293

Gene: FH

Linked Data

• gnomAD v4: 1-241511995-T-TGCACAGGTATCTTGCTGCCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511997_241512017dup , CM000663.2:g.241511997_241512017dup	GRCh38
NC_000001.10:g.241675297_241675317dup , CM000663.1:g.241675297_241675317dup	GRCh37
NC_000001.9:g.239741920_239741940dup	NCBI36
NG_012338.1:g.12739_12759dup , LRG_504:g.12739_12759dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1009_1029dup
ENST00000682162.1:c.535_555dup	ENSP00000508203.1:n.535_555dup
ENST00000682567.1:n.583_603dup
ENST00000683521.1:c.506_526dup	ENSP00000506864.1:p.Val175_His176insLeuGlySerLysIleProVal
ENST00000684483.1:c.506_526dup	ENSP00000507894.1:p.Val175_His176insLeuGlySerLysIleProVal
ENST00000366560.4:c.506_526dup MANE Select	ENSP00000355518.4:p.Val175_His176insLeuGlySerLysIleProVal
ENST00000366560.3:c.506_526dup	ENSP00000355518.3:p.Val175_His176insLeuGlySerLysIleProVal
ENST00000497042.1:n.202_222dup
NM_000143.3:c.506_526dup , LRG_504t1:c.506_526dup	NP_000134.2:p.Val175_His176insLeuGlySerLysIleProVal
XM_011544132.1:c.278_298dup	XP_011542434.1:p.Val99_His100insLeuGlySerLysIleProVal
XM_011544132.2:c.278_298dup	XP_011542434.1:p.Val99_His100insLeuGlySerLysIleProVal
NM_000143.4:c.506_526dup MANE Select	NP_000134.2:p.Val175_His176insLeuGlySerLysIleProVal