Canonical Allele Identifier: CA619266152
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs2041058160
gnomAD v2: 15-80444997-CTCAGG-C
gnomAD v3: 15-80152655-CTCAGG-C
gnomAD v4: 15-80152655-CTCAGG-C
MyVariant Identifiers: chr15:g.80444998_80445002del (hg19) chr15:g.80152656_80152660del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152656_80152660del , CM000677.2:g.80152656_80152660del GRCh38
NC_000015.9:g.80444998_80445002del , CM000677.1:g.80444998_80445002del GRCh37
NC_000015.8:g.78232053_78232057del NCBI36
NG_012833.1:g.4658_4662del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558022.5:c.-30+111_-30+115del ENSP00000453152.1:n.-30+111_-30+115del
Search 100 bp 5'
Search 100 bp 3'