Canonical Allele Identifier: CA971893495
Gene: FAH HGNC NCBI

Linked Data

gnomAD v3: 15-80152585-GGAGAGACTGGATGACCTGGGGCTTGCA-G
gnomAD v4: 15-80152585-GGAGAGACTGGATGACCTGGGGCTTGCA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152586_80152612del , CM000677.2:g.80152586_80152612del GRCh38
NC_000015.9:g.80444928_80444954del , CM000677.1:g.80444928_80444954del GRCh37
NC_000015.8:g.78231983_78232009del NCBI36
NG_012833.1:g.4588_4614del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+41_-30+67del ENSP00000453152.1:n.-30+41_-30+67del
Search 100 bp 5'
Search 100 bp 3'