Canonical Allele Identifier: CA16041759
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1057517436
gnomAD v3: 15-80173082-GTC-G
gnomAD v4: 15-80173082-GTC-G
MyVariant Identifiers: chr15:g.80465429_80465430del (hg19) chr15:g.80173087_80173088del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80173087_80173088del , CM000677.2:g.80173087_80173088del GRCh38
NC_000015.9:g.80465429_80465430del , CM000677.1:g.80465429_80465430del GRCh37
NC_000015.8:g.78252484_78252485del NCBI36
NG_012833.1:g.25089_25090del

Transcript Alleles

HGVS Amino-acid change
ENST00000682012.1:n.869_870del
ENST00000561421.6:c.780_781del MANE Select ENSP00000453347.2:p.Pro261ValfsTer29
ENST00000646551.1:n.2394_2395del
ENST00000261755.9:c.780_781del ENSP00000261755.5:p.Pro261ValfsTer29
ENST00000407106.5:c.780_781del ENSP00000385080.1:p.Pro261ValfsTer29
ENST00000539156.5:c.570_571del ENSP00000454271.1:p.Pro191ValfsTer29
ENST00000558627.1:n.708_709del
ENST00000559542.1:n.116_117del
ENST00000561421.5:c.780_781del ENSP00000453347.1:p.Pro261ValfsTer29
NM_000137.2:c.780_781del NP_000128.1:p.Pro261ValfsTer29
XM_024449872.1:c.780_781del XP_024305640.1:p.Pro261ValfsTer29
NM_000137.4:c.780_781del MANE Select NP_000128.1:p.Pro261ValfsTer29
NM_001374377.1:c.780_781del NP_001361306.1:p.Pro261ValfsTer29
NM_001374380.1:c.780_781del NP_001361309.1:p.Pro261ValfsTer29
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