Canonical Allele Identifier: CA971894131
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2041059665
gnomAD v3: 15-80152707-CAAGGG-C
gnomAD v4: 15-80152707-CAAGGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152708_80152712del , CM000677.2:g.80152708_80152712del GRCh38
NC_000015.9:g.80445050_80445054del , CM000677.1:g.80445050_80445054del GRCh37
NC_000015.8:g.78232105_78232109del NCBI36
NG_012833.1:g.4710_4714del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+163_-30+167del ENSP00000453152.1:n.-30+163_-30+167del
Search 100 bp 5'
Search 100 bp 3'