Canonical Allele Identifier: CA919600662
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1567112596
gnomAD v3: 15-80152654-GCTCA-G
gnomAD v4: 15-80152654-GCTCA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152655_80152658del , CM000677.2:g.80152655_80152658del GRCh38
NC_000015.9:g.80444997_80445000del , CM000677.1:g.80444997_80445000del GRCh37
NC_000015.8:g.78232052_78232055del NCBI36
NG_012833.1:g.4657_4660del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+110_-30+113del ENSP00000453152.1:n.-30+110_-30+113del
Search 100 bp 5'
Search 100 bp 3'