Canonical Allele Identifier: CA2190328323

Gene: FAH

Linked Data

• dbSNP Id: rs57837512
• gnomAD v4: 15-80153171-GGGAGTGGAGTGGAGTGGAGTGGAGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80153190_80153214del , CM000677.2:g.80153190_80153214del	GRCh38
NC_000015.9:g.80445532_80445556del , CM000677.1:g.80445532_80445556del	GRCh37
NC_000015.8:g.78232587_78232611del	NCBI36
NG_012833.1:g.5192_5216del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.81+55_81+79del	ENSP00000507680.1:n.81+55_81+79del
ENST00000682012.1:n.156+55_156+79del
ENST00000684363.1:c.81+55_81+79del	ENSP00000507314.1:n.81+55_81+79del
ENST00000684569.1:n.126+55_126+79del
ENST00000561421.6:c.81+55_81+79del MANE Select	ENSP00000453347.2:n.81+55_81+79del
ENST00000261755.9:c.81+55_81+79del	ENSP00000261755.5:n.81+55_81+79del
ENST00000407106.5:c.81+55_81+79del	ENSP00000385080.1:n.81+55_81+79del
ENST00000537726.5:n.163+55_163+79del
ENST00000558022.5:c.81+55_81+79del	ENSP00000453152.1:n.81+55_81+79del
ENST00000558767.5:n.342+55_342+79del
ENST00000561369.1:n.161+55_161+79del
ENST00000561421.5:c.81+55_81+79del	ENSP00000453347.1:n.81+55_81+79del
NM_000137.2:c.81+55_81+79del	NP_000128.1:n.81+55_81+79del
XM_024449872.1:c.81+55_81+79del	XP_024305640.1:n.81+55_81+79del
NM_000137.4:c.81+55_81+79del MANE Select	NP_000128.1:n.81+55_81+79del
NM_001374377.1:c.81+55_81+79del	NP_001361306.1:n.81+55_81+79del
NM_001374380.1:c.81+55_81+79del	NP_001361309.1:n.81+55_81+79del