Canonical Allele Identifier: CA2651255233

Gene: FH

Linked Data

• gnomAD v4: 1-241511834-TAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241511837_241511839del , CM000663.2:g.241511837_241511839del	GRCh38
NC_000001.10:g.241675137_241675139del , CM000663.1:g.241675137_241675139del	GRCh37
NC_000001.9:g.239741760_239741762del	NCBI36
NG_012338.1:g.12918_12920del , LRG_504:g.12918_12920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1058+130_1058+132del
ENST00000682162.1:c.584+130_584+132del	ENSP00000508203.1:n.584+130_584+132del
ENST00000682567.1:n.632+130_632+132del
ENST00000683521.1:c.555+130_555+132del	ENSP00000506864.1:n.555+130_555+132del
ENST00000684483.1:c.555+130_555+132del	ENSP00000507894.1:n.555+130_555+132del
ENST00000366560.4:c.555+130_555+132del MANE Select	ENSP00000355518.4:n.555+130_555+132del
ENST00000366560.3:c.555+130_555+132del	ENSP00000355518.3:n.555+130_555+132del
NM_000143.3:c.555+130_555+132del , LRG_504t1:c.555+130_555+132del	NP_000134.2:n.555+130_555+132del
XM_011544132.1:c.327+130_327+132del	XP_011542434.1:n.327+130_327+132del
XM_011544132.2:c.327+130_327+132del	XP_011542434.1:n.327+130_327+132del
NM_000143.4:c.555+130_555+132del MANE Select	NP_000134.2:n.555+130_555+132del