Canonical Allele Identifier: CA971894334

Gene: FAH

Linked Data

• gnomAD v3: 15-80152789-GCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGC-G
• gnomAD v4: 15-80152789-GCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGGGGGGCGGGGCCGGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152792_80152979del , CM000677.2:g.80152792_80152979del	GRCh38
NC_000015.9:g.80445134_80445321del , CM000677.1:g.80445134_80445321del	GRCh37
NC_000015.8:g.78232189_78232376del	NCBI36
NG_012833.1:g.4794_4981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407106.5:c.-143_-29-47del
ENST00000537726.5:n.4_54-47del
ENST00000558022.5:c.-29-234_-29-47del	ENSP00000453152.1:n.-29-234_-29-47del
NM_001374377.1:c.-143_-29-47del
NM_001374380.1:c.-79_-29-47del