Canonical Allele Identifier: CA619266148
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1303743493
gnomAD v2: 15-80444955-A-AGGCGGGGCGAGGGGAGG
gnomAD v3: 15-80152613-A-AGGCGGGGCGAGGGGAGG
gnomAD v4: 15-80152613-A-AGGCGGGGCGAGGGGAGG
MyVariant Identifiers: chr15:g.80444972_80444973insGGCGGGGCGAGGGGAGG (hg19) chr15:g.80152630_80152631insGGCGGGGCGAGGGGAGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152639_80152655dup , CM000677.2:g.80152639_80152655dup GRCh38
NC_000015.9:g.80444981_80444997dup , CM000677.1:g.80444981_80444997dup GRCh37
NC_000015.8:g.78232036_78232052dup NCBI36
NG_012833.1:g.4641_4657dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+94_-30+110dup ENSP00000453152.1:n.-30+94_-30+110dup
Search 100 bp 5'
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