Canonical Allele Identifier: CA971894766

Gene: FAH

Linked Data

• gnomAD v3: 15-80153171-G-GGGAGTGGAGTGGAGTGGAGTGGACTGGAGT
• gnomAD v4: 15-80153171-G-GGGAGTGGAGTGGAGTGGAGTGGACTGGAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153194_80153195insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA , CM000677.2:g.80153194_80153195insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA	GRCh38
NC_000015.9:g.80445536_80445537insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA , CM000677.1:g.80445536_80445537insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA	GRCh37
NC_000015.8:g.78232591_78232592insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA	NCBI36
NG_012833.1:g.5196_5197insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA	ENSP00000507680.1:n.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGT...
ENST00000682012.1:n.156+59_156+60insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA
ENST00000684363.1:c.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA	ENSP00000507314.1:n.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGT...
ENST00000684569.1:n.126+59_126+60insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA
ENST00000561421.6:c.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA MANE Select	ENSP00000453347.2:n.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGT...
ENST00000261755.9:c.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA	ENSP00000261755.5:n.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGT...
ENST00000407106.5:c.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA	ENSP00000385080.1:n.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGT...
ENST00000537726.5:n.163+59_163+60insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA
ENST00000558022.5:c.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA	ENSP00000453152.1:n.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGT...
ENST00000558767.5:n.342+59_342+60insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA
ENST00000561369.1:n.161+59_161+60insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA
ENST00000561421.5:c.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA	ENSP00000453347.1:n.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGT...
NM_000137.2:c.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA	NP_000128.1:n.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA
XM_024449872.1:c.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA	XP_024305640.1:n.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA...
NM_000137.4:c.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA MANE Select	NP_000128.1:n.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA
NM_001374377.1:c.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA	NP_001361306.1:n.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA...
NM_001374380.1:c.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA	NP_001361309.1:n.81+59_81+60insCTGGAGTGGAGTGGAGTGGAGTGGAGTGGA...