Canonical Allele Identifier: CA971893034
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2041054163
gnomAD v3: 15-80152495-AGGGGCGGGGCTCG-A
gnomAD v4: 15-80152495-AGGGGCGGGGCTCG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152499_80152511del , CM000677.2:g.80152499_80152511del GRCh38
NC_000015.9:g.80444841_80444853del , CM000677.1:g.80444841_80444853del GRCh37
NC_000015.8:g.78231896_78231908del NCBI36
NG_012833.1:g.4501_4513del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-76_-64del ENSP00000453152.1:n.-76_-64del
Search 100 bp 5'
Search 100 bp 3'