Canonical Allele Identifier: CA971893139
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2041054477
gnomAD v3: 15-80152508-GGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCA-G
gnomAD v4: 15-80152508-GGGGAGTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152514_80152663del , CM000677.2:g.80152514_80152663del GRCh38
NC_000015.9:g.80444856_80445005del , CM000677.1:g.80444856_80445005del GRCh37
NC_000015.8:g.78231911_78232060del NCBI36
NG_012833.1:g.4516_4665del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-61_-30+118del
Search 100 bp 5'
Search 100 bp 3'