Canonical Allele Identifier: CA2629872848

Gene: FAH

Linked Data

• gnomAD v4: 15-80152828-TGGCGGGGGTCAGGGTAGGGGGGAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152832_80152856del , CM000677.2:g.80152832_80152856del	GRCh38
NC_000015.9:g.80445174_80445198del , CM000677.1:g.80445174_80445198del	GRCh37
NC_000015.8:g.78232229_78232253del	NCBI36
NG_012833.1:g.4834_4858del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-223_-199del	ENSP00000507680.1:n.-223_-199del
ENST00000261755.9:c.-39_-30+15del
ENST00000407106.5:c.-103_-79del	ENSP00000385080.1:n.-103_-79del
ENST00000537726.5:n.44_53+15del
ENST00000558022.5:c.-29-194_-29-170del	ENSP00000453152.1:n.-29-194_-29-170del
ENST00000558767.5:n.39_63del
XM_024449872.1:c.-103_-79del	XP_024305640.1:n.-103_-79del
NM_001374377.1:c.-103_-79del	NP_001361306.1:n.-103_-79del
NM_001374380.1:c.-39_-30+15del