Canonical Allele Identifier: CA2629872892

Gene: FAH

Linked Data

• gnomAD v4: 15-80152845-GGGGGGAGGGGCAGGGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152846_80152862del , CM000677.2:g.80152846_80152862del	GRCh38
NC_000015.9:g.80445188_80445204del , CM000677.1:g.80445188_80445204del	GRCh37
NC_000015.8:g.78232243_78232259del	NCBI36
NG_012833.1:g.4848_4864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-209_-193del	ENSP00000507680.1:n.-209_-193del
ENST00000261755.9:c.-30+5_-30+21del	ENSP00000261755.5:n.-30+5_-30+21del
ENST00000407106.5:c.-89_-73del	ENSP00000385080.1:n.-89_-73del
ENST00000537726.5:n.53+5_53+21del
ENST00000558022.5:c.-29-180_-29-164del	ENSP00000453152.1:n.-29-180_-29-164del
ENST00000558767.5:n.53_69del
XM_024449872.1:c.-89_-73del	XP_024305640.1:n.-89_-73del
NM_001374377.1:c.-89_-73del	NP_001361306.1:n.-89_-73del
NM_001374380.1:c.-30+5_-30+21del	NP_001361309.1:n.-30+5_-30+21del