Canonical Allele Identifier: CA971894108

Gene: FAH

Linked Data

• gnomAD v3: 15-80152705-G-GCCTGACCACA
• gnomAD v4: 15-80152705-G-GCCTGACCACA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152705_80152706insCCTGACCACA , CM000677.2:g.80152705_80152706insCCTGACCACA	GRCh38
NC_000015.9:g.80445047_80445048insCCTGACCACA , CM000677.1:g.80445047_80445048insCCTGACCACA	GRCh37
NC_000015.8:g.78232102_78232103insCCTGACCACA	NCBI36
NG_012833.1:g.4707_4708insCCTGACCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+160_-30+161insCCTGACCACA	ENSP00000453152.1:n.-30+160_-30+161insCCTGACCACA