Canonical Allele Identifier: CA2575860918
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80172056del , CM000677.2:g.80172056del GRCh38
NC_000015.9:g.80464398del , CM000677.1:g.80464398del GRCh37
NC_000015.8:g.78251453del NCBI36
NG_012833.1:g.24058del

Transcript Alleles

HGVS Amino-acid change
ENST00000682012.1:n.796-958del
ENST00000561421.6:c.607-93del MANE Select ENSP00000453347.2:n.607-93del
ENST00000646551.1:n.2234-106del
ENST00000261755.9:c.607-93del ENSP00000261755.5:n.607-93del
ENST00000407106.5:c.607-93del ENSP00000385080.1:n.607-93del
ENST00000539156.5:c.397-93del ENSP00000454271.1:n.397-93del
ENST00000558627.1:n.535-93del
ENST00000561421.5:c.607-93del ENSP00000453347.1:n.607-93del
NM_000137.2:c.607-93del NP_000128.1:n.607-93del
XM_024449872.1:c.607-93del XP_024305640.1:n.607-93del
NM_000137.4:c.607-93del MANE Select NP_000128.1:n.607-93del
NM_001374377.1:c.607-93del NP_001361306.1:n.607-93del
NM_001374380.1:c.607-93del NP_001361309.1:n.607-93del