Canonical Allele Identifier: CA619267393
Gene: FAH HGNC NCBI

Linked Data

dbSNP Id: rs1485003069

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80162039_80162042del , CM000677.2:g.80162039_80162042del GRCh38
NC_000015.9:g.80454381_80454384del , CM000677.1:g.80454381_80454384del GRCh37
NC_000015.8:g.78241436_78241439del NCBI36
NG_012833.1:g.14041_14044del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.365-207_365-204del ENSP00000507680.1:n.365-207_365-204del
ENST00000682012.1:n.440-207_440-204del
ENST00000683593.1:n.1821_1824del
ENST00000684363.1:c.365-353_365-350del ENSP00000507314.1:n.365-353_365-350del
ENST00000684569.1:n.410-207_410-204del
ENST00000561421.6:c.365-207_365-204del MANE Select ENSP00000453347.2:n.365-207_365-204del
ENST00000646551.1:n.1852-207_1852-204del
ENST00000261755.9:c.365-207_365-204del ENSP00000261755.5:n.365-207_365-204del
ENST00000407106.5:c.365-207_365-204del ENSP00000385080.1:n.365-207_365-204del
ENST00000537726.5:n.511-207_511-204del
ENST00000539156.5:c.155-207_155-204del ENSP00000454271.1:n.155-207_155-204del
ENST00000558022.5:c.365-207_365-204del ENSP00000453152.1:n.365-207_365-204del
ENST00000558627.1:n.293-207_293-204del
ENST00000558767.5:n.626-207_626-204del
ENST00000561369.1:n.509-207_509-204del
ENST00000561421.5:c.365-207_365-204del ENSP00000453347.1:n.365-207_365-204del
NM_000137.2:c.365-207_365-204del NP_000128.1:n.365-207_365-204del
XM_024449872.1:c.365-207_365-204del XP_024305640.1:n.365-207_365-204del
NM_000137.4:c.365-207_365-204del MANE Select NP_000128.1:n.365-207_365-204del
NM_001374377.1:c.365-207_365-204del NP_001361306.1:n.365-207_365-204del
NM_001374380.1:c.365-207_365-204del NP_001361309.1:n.365-207_365-204del