Canonical Allele Identifier: CA971893700
Gene: FAH HGNC NCBI

Linked Data

gnomAD v4: 15-80152638-C-CTCTG
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152638_80152639insTCTG , CM000677.2:g.80152638_80152639insTCTG GRCh38
NC_000015.9:g.80444980_80444981insTCTG , CM000677.1:g.80444980_80444981insTCTG GRCh37
NC_000015.8:g.78232035_78232036insTCTG NCBI36
NG_012833.1:g.4640_4641insTCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+93_-30+94insTCTG ENSP00000453152.1:n.-30+93_-30+94insTCTG
Search 100 bp 5'
Search 100 bp 3'