Canonical Allele Identifier: CA2629872564

Gene: FAH

Linked Data

• gnomAD v4: 15-80152633-C-CGGGGCGATGGGAGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152640_80152641insTGGGAGGGGGGGGGCGA , CM000677.2:g.80152640_80152641insTGGGAGGGGGGGGGCGA	GRCh38
NC_000015.9:g.80444982_80444983insTGGGAGGGGGGGGGCGA , CM000677.1:g.80444982_80444983insTGGGAGGGGGGGGGCGA	GRCh37
NC_000015.8:g.78232037_78232038insTGGGAGGGGGGGGGCGA	NCBI36
NG_012833.1:g.4642_4643insTGGGAGGGGGGGGGCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+95_-30+96insTGGGAGGGGGGGGGCGA	ENSP00000453152.1:n.-30+95_-30+96insTGGGAGGGGGGGGGCGA