Canonical Allele Identifier: CA2629873182

Gene: FAH

Linked Data

• gnomAD v4: 15-80153171-G-GGGAGTGGAGTGGAGTGGAGTGGAGTGGAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153199_80153200insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA , CM000677.2:g.80153199_80153200insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	GRCh38
NC_000015.9:g.80445541_80445542insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA , CM000677.1:g.80445541_80445542insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	GRCh37
NC_000015.8:g.78232596_78232597insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	NCBI36
NG_012833.1:g.5201_5202insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	ENSP00000507680.1:n.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGT...
ENST00000682012.1:n.156+64_156+65insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA
ENST00000684363.1:c.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	ENSP00000507314.1:n.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGT...
ENST00000684569.1:n.126+64_126+65insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA
ENST00000561421.6:c.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA MANE Select	ENSP00000453347.2:n.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGT...
ENST00000261755.9:c.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	ENSP00000261755.5:n.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGT...
ENST00000407106.5:c.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	ENSP00000385080.1:n.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGT...
ENST00000537726.5:n.163+64_163+65insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA
ENST00000558022.5:c.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	ENSP00000453152.1:n.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGT...
ENST00000558767.5:n.342+64_342+65insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA
ENST00000561369.1:n.161+64_161+65insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA
ENST00000561421.5:c.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	ENSP00000453347.1:n.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGT...
NM_000137.2:c.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	NP_000128.1:n.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA
XM_024449872.1:c.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	XP_024305640.1:n.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA...
NM_000137.4:c.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA MANE Select	NP_000128.1:n.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA
NM_001374377.1:c.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	NP_001361306.1:n.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA...
NM_001374380.1:c.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA	NP_001361309.1:n.81+64_81+65insATGGAGTGGAGTGGAGTGGAGTGGAGTGGA...