Canonical Allele Identifier: CA2629872990

Gene: FAH

Linked Data

• gnomAD v4: 15-80152908-A-AAGATC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152908_80152909insAGATC , CM000677.2:g.80152908_80152909insAGATC	GRCh38
NC_000015.9:g.80445250_80445251insAGATC , CM000677.1:g.80445250_80445251insAGATC	GRCh37
NC_000015.8:g.78232305_78232306insAGATC	NCBI36
NG_012833.1:g.4910_4911insAGATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-147_-146insAGATC	ENSP00000507680.1:n.-147_-146insAGATC
ENST00000261755.9:c.-30+67_-30+68insAGATC	ENSP00000261755.5:n.-30+67_-30+68insAGATC
ENST00000407106.5:c.-30+3_-30+4insAGATC	ENSP00000385080.1:n.-30+3_-30+4insAGATC
ENST00000537726.5:n.53+67_53+68insAGATC
ENST00000558022.5:c.-29-118_-29-117insAGATC	ENSP00000453152.1:n.-29-118_-29-117insAGATC
ENST00000558767.5:n.115_116insAGATC
ENST00000561369.1:n.51+3_51+4insAGATC
ENST00000561421.5:c.-147_-146insAGATC	ENSP00000453347.1:n.-147_-146insAGATC
NM_000137.2:c.-147_-146insAGATC	NP_000128.1:n.-147_-146insAGATC
XM_024449872.1:c.-30+3_-30+4insAGATC	XP_024305640.1:n.-30+3_-30+4insAGATC
NM_001374377.1:c.-30+3_-30+4insAGATC	NP_001361306.1:n.-30+3_-30+4insAGATC
NM_001374380.1:c.-30+67_-30+68insAGATC	NP_001361309.1:n.-30+67_-30+68insAGATC