Canonical Allele Identifier: CA971893671
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152628-AGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCG-A
gnomAD v4: 15-80152628-AGGGGCGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAGGGTGAGACTGTGGAGGACCTGGGGCTCGCG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152632_80152700del , CM000677.2:g.80152632_80152700del GRCh38
NC_000015.9:g.80444974_80445042del , CM000677.1:g.80444974_80445042del GRCh37
NC_000015.8:g.78232029_78232097del NCBI36
NG_012833.1:g.4634_4702del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+87_-30+155del ENSP00000453152.1:n.-30+87_-30+155del
Search 100 bp 5'
Search 100 bp 3'