Canonical Allele Identifier: CA2629873150

Gene: FAH

Linked Data

• gnomAD v4: 15-80153079-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153080del , CM000677.2:g.80153080del	GRCh38
NC_000015.9:g.80445422del , CM000677.1:g.80445422del	GRCh37
NC_000015.8:g.78232477del	NCBI36
NG_012833.1:g.5082del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.26del	ENSP00000507680.1:p.Asp9ValfsTer24
ENST00000682012.1:n.101del
ENST00000684363.1:c.26del	ENSP00000507314.1:p.Asp9ValfsTer24
ENST00000684569.1:n.71del
ENST00000561421.6:c.26del MANE Select	ENSP00000453347.2:p.Asp9ValfsTer24
ENST00000261755.9:c.26del	ENSP00000261755.5:p.Asp9ValfsTer24
ENST00000407106.5:c.26del	ENSP00000385080.1:p.Asp9ValfsTer24
ENST00000537726.5:n.108del
ENST00000558022.5:c.26del	ENSP00000453152.1:p.Asp9ValfsTer24
ENST00000558767.5:n.287del
ENST00000561369.1:n.106del
ENST00000561421.5:c.26del	ENSP00000453347.1:p.Asp9ValfsTer24
NM_000137.2:c.26del	NP_000128.1:p.Asp9ValfsTer24
XM_024449872.1:c.26del	XP_024305640.1:p.Asp9ValfsTer24
NM_000137.4:c.26del MANE Select	NP_000128.1:p.Asp9ValfsTer24
NM_001374377.1:c.26del	NP_001361306.1:p.Asp9ValfsTer24
NM_001374380.1:c.26del	NP_001361309.1:p.Asp9ValfsTer24