Canonical Allele Identifier: CA2629873025

Gene: FAH

Linked Data

• gnomAD v4: 15-80152933-TCACCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152934_80152938del , CM000677.2:g.80152934_80152938del	GRCh38
NC_000015.9:g.80445276_80445280del , CM000677.1:g.80445276_80445280del	GRCh37
NC_000015.8:g.78232331_78232335del	NCBI36
NG_012833.1:g.4936_4940del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-121_-117del	ENSP00000507680.1:n.-121_-117del
ENST00000261755.9:c.-29-92_-29-88del	ENSP00000261755.5:n.-29-92_-29-88del
ENST00000407106.5:c.-30+29_-30+33del	ENSP00000385080.1:n.-30+29_-30+33del
ENST00000537726.5:n.54-92_54-88del
ENST00000558022.5:c.-29-92_-29-88del	ENSP00000453152.1:n.-29-92_-29-88del
ENST00000558767.5:n.141_145del
ENST00000561369.1:n.51+29_51+33del
ENST00000561421.5:c.-121_-117del	ENSP00000453347.1:n.-121_-117del
NM_000137.2:c.-121_-117del	NP_000128.1:n.-121_-117del
XM_024449872.1:c.-30+29_-30+33del	XP_024305640.1:n.-30+29_-30+33del
NM_001374377.1:c.-30+29_-30+33del	NP_001361306.1:n.-30+29_-30+33del
NM_001374380.1:c.-29-92_-29-88del	NP_001361309.1:n.-29-92_-29-88del