Canonical Allele Identifier: CA2629872565
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152633-CGGGGCGAGGGGAGGGGCGGGGCTCAGGGAGGGAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152636_80152669del , CM000677.2:g.80152636_80152669del GRCh38
NC_000015.9:g.80444978_80445011del , CM000677.1:g.80444978_80445011del GRCh37
NC_000015.8:g.78232033_78232066del NCBI36
NG_012833.1:g.4638_4671del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+91_-30+124del ENSP00000453152.1:n.-30+91_-30+124del
Search 100 bp 5'
Search 100 bp 3'