Canonical Allele Identifier: CA2629873198

Gene: FAH

Linked Data

• gnomAD v4: 15-80153177-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153179_80153180del , CM000677.2:g.80153179_80153180del	GRCh38
NC_000015.9:g.80445521_80445522del , CM000677.1:g.80445521_80445522del	GRCh37
NC_000015.8:g.78232576_78232577del	NCBI36
NG_012833.1:g.5181_5182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.81+44_81+45del	ENSP00000507680.1:n.81+44_81+45del
ENST00000682012.1:n.156+44_156+45del
ENST00000684363.1:c.81+44_81+45del	ENSP00000507314.1:n.81+44_81+45del
ENST00000684569.1:n.126+44_126+45del
ENST00000561421.6:c.81+44_81+45del MANE Select	ENSP00000453347.2:n.81+44_81+45del
ENST00000261755.9:c.81+44_81+45del	ENSP00000261755.5:n.81+44_81+45del
ENST00000407106.5:c.81+44_81+45del	ENSP00000385080.1:n.81+44_81+45del
ENST00000537726.5:n.163+44_163+45del
ENST00000558022.5:c.81+44_81+45del	ENSP00000453152.1:n.81+44_81+45del
ENST00000558767.5:n.342+44_342+45del
ENST00000561369.1:n.161+44_161+45del
ENST00000561421.5:c.81+44_81+45del	ENSP00000453347.1:n.81+44_81+45del
NM_000137.2:c.81+44_81+45del	NP_000128.1:n.81+44_81+45del
XM_024449872.1:c.81+44_81+45del	XP_024305640.1:n.81+44_81+45del
NM_000137.4:c.81+44_81+45del MANE Select	NP_000128.1:n.81+44_81+45del
NM_001374377.1:c.81+44_81+45del	NP_001361306.1:n.81+44_81+45del
NM_001374380.1:c.81+44_81+45del	NP_001361309.1:n.81+44_81+45del