Canonical Allele Identifier: CA2629873180

Gene: FAH

Linked Data

• gnomAD v4: 15-80153171-G-GGGAATGGAGTGGAGTGGAGTGGAGTGGAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153174_80153175insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA , CM000677.2:g.80153174_80153175insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	GRCh38
NC_000015.9:g.80445516_80445517insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA , CM000677.1:g.80445516_80445517insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	GRCh37
NC_000015.8:g.78232571_78232572insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	NCBI36
NG_012833.1:g.5176_5177insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	ENSP00000507680.1:n.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGT...
ENST00000682012.1:n.156+39_156+40insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA
ENST00000684363.1:c.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	ENSP00000507314.1:n.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGT...
ENST00000684569.1:n.126+39_126+40insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA
ENST00000561421.6:c.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA MANE Select	ENSP00000453347.2:n.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGT...
ENST00000261755.9:c.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	ENSP00000261755.5:n.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGT...
ENST00000407106.5:c.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	ENSP00000385080.1:n.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGT...
ENST00000537726.5:n.163+39_163+40insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA
ENST00000558022.5:c.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	ENSP00000453152.1:n.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGT...
ENST00000558767.5:n.342+39_342+40insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA
ENST00000561369.1:n.161+39_161+40insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA
ENST00000561421.5:c.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	ENSP00000453347.1:n.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGT...
NM_000137.2:c.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	NP_000128.1:n.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA
XM_024449872.1:c.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	XP_024305640.1:n.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA...
NM_000137.4:c.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA MANE Select	NP_000128.1:n.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA
NM_001374377.1:c.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	NP_001361306.1:n.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA...
NM_001374380.1:c.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	NP_001361309.1:n.81+39_81+40insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA...