Canonical Allele Identifier: CA619266144
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1595888257
gnomAD v2: 15-80444925-AG-A
gnomAD v3: 15-80152583-AG-A
gnomAD v4: 15-80152583-AG-A
MyVariant Identifiers: chr15:g.80444926del (hg19) chr15:g.80152584del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152586del , CM000677.2:g.80152586del GRCh38
NC_000015.9:g.80444928del , CM000677.1:g.80444928del GRCh37
NC_000015.8:g.78231983del NCBI36
NG_012833.1:g.4588del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+41del ENSP00000453152.1:n.-30+41del
Search 100 bp 5'
Search 100 bp 3'