Canonical Allele Identifier: CA2629872717
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152720-GGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGGCGGGGCCAGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152727_80152863del , CM000677.2:g.80152727_80152863del GRCh38
NC_000015.9:g.80445069_80445205del , CM000677.1:g.80445069_80445205del GRCh37
NC_000015.8:g.78232124_78232260del NCBI36
NG_012833.1:g.4729_4865del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+182_-29-163del ENSP00000453152.1:n.-30+182_-29-163del
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Search 100 bp 3'