Canonical Allele Identifier: CA619266147
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1303743493
gnomAD v2: 15-80444955-AGGCGGGGCGAGGGGAGG-A
gnomAD v3: 15-80152613-AGGCGGGGCGAGGGGAGG-A
gnomAD v4: 15-80152613-AGGCGGGGCGAGGGGAGG-A
MyVariant Identifiers: chr15:g.80444956_80444972del (hg19) chr15:g.80152614_80152630del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152639_80152655del , CM000677.2:g.80152639_80152655del GRCh38
NC_000015.9:g.80444981_80444997del , CM000677.1:g.80444981_80444997del GRCh37
NC_000015.8:g.78232036_78232052del NCBI36
NG_012833.1:g.4641_4657del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+94_-30+110del ENSP00000453152.1:n.-30+94_-30+110del
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