Canonical Allele Identifier: CA971894317

Gene: FAH

Linked Data

• gnomAD v3: 15-80152786-GGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCC-G
• gnomAD v4: 15-80152786-GGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152791_80152977del , CM000677.2:g.80152791_80152977del	GRCh38
NC_000015.9:g.80445133_80445319del , CM000677.1:g.80445133_80445319del	GRCh37
NC_000015.8:g.78232188_78232374del	NCBI36
NG_012833.1:g.4793_4979del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407106.5:c.-144_-29-49del
ENST00000558022.5:c.-29-235_-29-49del	ENSP00000453152.1:n.-29-235_-29-49del