Canonical Allele Identifier: CA2804915863

Gene: FAH

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162472_80162473insCTGCCATTGCTGGCTGCAGGCTGAGCTCT , CM000677.2:g.80162472_80162473insCTGCCATTGCTGGCTGCAGGCTGAGCTCT	GRCh38
NC_000015.9:g.80454814_80454815insCTGCCATTGCTGGCTGCAGGCTGAGCTCT , CM000677.1:g.80454814_80454815insCTGCCATTGCTGGCTGCAGGCTGAGCTCT	GRCh37
NC_000015.8:g.78241869_78241870insCTGCCATTGCTGGCTGCAGGCTGAGCTCT	NCBI36
NG_012833.1:g.14474_14475insCTGCCATTGCTGGCTGCAGGCTGAGCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.*108_*109insCTGCCATTGCTGGCTGCAGGCTGAGCTCT	ENSP00000507680.1:n.*108_*109insCTGCCATTGCTGGCTGCAGGCTGAGCTCT...
ENST00000682012.1:n.530+136_530+137insCTGCCATTGCTGGCTGCAGGCTGAGCTCT
ENST00000683593.1:n.2254_2255insCTGCCATTGCTGGCTGCAGGCTGAGCTCT
ENST00000684363.1:c.445_446insCTGCCATTGCTGGCTGCAGGCTGAGCTCT	ENSP00000507314.1:n.445_446insCTGCCATTGCTGGCTGCAGGCTGAGCTCT
ENST00000684569.1:n.500+136_500+137insCTGCCATTGCTGGCTGCAGGCTGAGCTCT
ENST00000561421.6:c.455+136_455+137insCTGCCATTGCTGGCTGCAGGCTGAGCTCT MANE Select	ENSP00000453347.2:n.455+136_455+137insCTGCCATTGCTGGCTGCAGGCTG...
ENST00000646551.1:n.1942+136_1942+137insCTGCCATTGCTGGCTGCAGGCTGAGCTCT
ENST00000261755.9:c.455+136_455+137insCTGCCATTGCTGGCTGCAGGCTGAGCTCT	ENSP00000261755.5:n.455+136_455+137insCTGCCATTGCTGGCTGCAGGCTG...
ENST00000407106.5:c.455+136_455+137insCTGCCATTGCTGGCTGCAGGCTGAGCTCT	ENSP00000385080.1:n.455+136_455+137insCTGCCATTGCTGGCTGCAGGCTG...
ENST00000537726.5:n.737_738insCTGCCATTGCTGGCTGCAGGCTGAGCTCT
ENST00000539156.5:c.245+136_245+137insCTGCCATTGCTGGCTGCAGGCTGAGCTCT	ENSP00000454271.1:n.245+136_245+137insCTGCCATTGCTGGCTGCAGGCTG...
ENST00000558022.5:c.455+136_455+137insCTGCCATTGCTGGCTGCAGGCTGAGCTCT	ENSP00000453152.1:n.455+136_455+137insCTGCCATTGCTGGCTGCAGGCTG...
ENST00000558627.1:n.383+136_383+137insCTGCCATTGCTGGCTGCAGGCTGAGCTCT
ENST00000558767.5:n.852_853insCTGCCATTGCTGGCTGCAGGCTGAGCTCT
ENST00000561369.1:n.735_736insCTGCCATTGCTGGCTGCAGGCTGAGCTCT
ENST00000561421.5:c.455+136_455+137insCTGCCATTGCTGGCTGCAGGCTGAGCTCT	ENSP00000453347.1:n.455+136_455+137insCTGCCATTGCTGGCTGCAGGCTG...
NM_000137.2:c.455+136_455+137insCTGCCATTGCTGGCTGCAGGCTGAGCTCT	NP_000128.1:n.455+136_455+137insCTGCCATTGCTGGCTGCAGGCTGAGCTCT...
XM_024449872.1:c.455+136_455+137insCTGCCATTGCTGGCTGCAGGCTGAGCTCT	XP_024305640.1:n.455+136_455+137insCTGCCATTGCTGGCTGCAGGCTGAGC...
NM_000137.4:c.455+136_455+137insCTGCCATTGCTGGCTGCAGGCTGAGCTCT MANE Select	NP_000128.1:n.455+136_455+137insCTGCCATTGCTGGCTGCAGGCTGAGCTCT...
NM_001374377.1:c.455+136_455+137insCTGCCATTGCTGGCTGCAGGCTGAGCTCT	NP_001361306.1:n.455+136_455+137insCTGCCATTGCTGGCTGCAGGCTGAGC...
NM_001374380.1:c.455+136_455+137insCTGCCATTGCTGGCTGCAGGCTGAGCTCT	NP_001361309.1:n.455+136_455+137insCTGCCATTGCTGGCTGCAGGCTGAGC...