Canonical Allele Identifier: CA619266153
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1190682149
gnomAD v2: 15-80444997-CT-C
gnomAD v3: 15-80152655-CT-C
gnomAD v4: 15-80152655-CT-C
MyVariant Identifiers: chr15:g.80444998del (hg19) chr15:g.80444998_80445002delinsCAGG (hg19) chr15:g.80152656del (hg38) chr15:g.80152656_80152660delinsCAGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152656del , CM000677.2:g.80152656del GRCh38
NC_000015.9:g.80444998del , CM000677.1:g.80444998del GRCh37
NC_000015.8:g.78232053del NCBI36
NG_012833.1:g.4658del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+111del ENSP00000453152.1:n.-30+111del
Search 100 bp 5'
Search 100 bp 3'