Canonical Allele Identifier: CA2651255370

Gene: FH

Linked Data

• gnomAD v4: 1-241512281-TGAAATATTATCTATAGTGAATGGTATGACAATTCACTGGTTTCAAATGAAAAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512285_241512338del , CM000663.2:g.241512285_241512338del	GRCh38
NC_000001.10:g.241675585_241675638del , CM000663.1:g.241675585_241675638del	GRCh37
NC_000001.9:g.239742208_239742261del	NCBI36
NG_012338.1:g.12420_12473del , LRG_504:g.12420_12473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.882-192_882-139del
ENST00000682162.1:c.408-192_408-139del	ENSP00000508203.1:n.408-192_408-139del
ENST00000682567.1:n.456-192_456-139del
ENST00000683521.1:c.379-192_379-139del	ENSP00000506864.1:n.379-192_379-139del
ENST00000684483.1:c.379-192_379-139del	ENSP00000507894.1:n.379-192_379-139del
ENST00000366560.4:c.379-192_379-139del MANE Select	ENSP00000355518.4:n.379-192_379-139del
ENST00000366560.3:c.379-192_379-139del	ENSP00000355518.3:n.379-192_379-139del
ENST00000497042.1:n.75-192_75-139del
NM_000143.3:c.379-192_379-139del , LRG_504t1:c.379-192_379-139del	NP_000134.2:n.379-192_379-139del
XM_011544132.1:c.151-192_151-139del	XP_011542434.1:n.151-192_151-139del
XM_011544132.2:c.151-192_151-139del	XP_011542434.1:n.151-192_151-139del
NM_000143.4:c.379-192_379-139del MANE Select	NP_000134.2:n.379-192_379-139del