Canonical Allele Identifier: CA2629872696

Gene: FAH

Linked Data

• gnomAD v4: 15-80152701-TCGGGGCAAGGGGAGGGGCGGGGCTCAGGGAGGGAGGAGAGACTGGAGGACCTGAGGCCCACGGGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152708_80152773del , CM000677.2:g.80152708_80152773del	GRCh38
NC_000015.9:g.80445050_80445115del , CM000677.1:g.80445050_80445115del	GRCh37
NC_000015.8:g.78232105_78232170del	NCBI36
NG_012833.1:g.4710_4775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-30+163_-30+228del	ENSP00000453152.1:n.-30+163_-30+228del