Canonical Allele Identifier: CA619266174
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1177221372
gnomAD v2: 15-80445105-G-GGGGGCGGGGCCAGGGGC
gnomAD v3: 15-80152763-G-GGGGGCGGGGCCAGGGGC
gnomAD v4: 15-80152763-G-GGGGGCGGGGCCAGGGGC
MyVariant Identifiers: chr15:g.80445105_80445106insGGGGCGGGGCCAGGGGC (hg19) chr15:g.80152763_80152764insGGGGCGGGGCCAGGGGC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152774_80152790dup , CM000677.2:g.80152774_80152790dup GRCh38
NC_000015.9:g.80445116_80445132dup , CM000677.1:g.80445116_80445132dup GRCh37
NC_000015.8:g.78232171_78232187dup NCBI36
NG_012833.1:g.4776_4792dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+229_-29-236dup ENSP00000453152.1:n.-30+229_-29-236dup
Search 100 bp 5'
Search 100 bp 3'