Canonical Allele Identifier: CA971893183
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152513-GTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCA-G
gnomAD v4: 15-80152513-GTGAGGCAAGACTGGAGGGCCTGGGACTCTCGGGTACCCGGGCCAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGAGAGACTGGATGACCTGGGGCTTGCAAGGCGGGGCGAGGGGAGGGGCGGGGCGAGGGGAGGGGCGGGGCTCA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152514_80152658del , CM000677.2:g.80152514_80152658del GRCh38
NC_000015.9:g.80444856_80445000del , CM000677.1:g.80444856_80445000del GRCh37
NC_000015.8:g.78231911_78232055del NCBI36
NG_012833.1:g.4516_4660del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-61_-30+113del
Search 100 bp 5'
Search 100 bp 3'