Canonical Allele Identifier: CA2629872888

Gene: FAH

Linked Data

• gnomAD v4: 15-80152844-AGGGGGGAGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152846_80152855del , CM000677.2:g.80152846_80152855del	GRCh38
NC_000015.9:g.80445188_80445197del , CM000677.1:g.80445188_80445197del	GRCh37
NC_000015.8:g.78232243_78232252del	NCBI36
NG_012833.1:g.4848_4857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.-209_-200del	ENSP00000507680.1:n.-209_-200del
ENST00000261755.9:c.-30+5_-30+14del	ENSP00000261755.5:n.-30+5_-30+14del
ENST00000407106.5:c.-89_-80del	ENSP00000385080.1:n.-89_-80del
ENST00000537726.5:n.53+5_53+14del
ENST00000558022.5:c.-29-180_-29-171del	ENSP00000453152.1:n.-29-180_-29-171del
ENST00000558767.5:n.53_62del
XM_024449872.1:c.-89_-80del	XP_024305640.1:n.-89_-80del
NM_001374377.1:c.-89_-80del	NP_001361306.1:n.-89_-80del
NM_001374380.1:c.-30+5_-30+14del	NP_001361309.1:n.-30+5_-30+14del