Canonical Allele Identifier: CA2629878574

Gene: FAH

Linked Data

• gnomAD v4: 15-80162535-A-ATCCCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80162535_80162536insTCCCAC , CM000677.2:g.80162535_80162536insTCCCAC	GRCh38
NC_000015.9:g.80454877_80454878insTCCCAC , CM000677.1:g.80454877_80454878insTCCCAC	GRCh37
NC_000015.8:g.78241932_78241933insTCCCAC	NCBI36
NG_012833.1:g.14537_14538insTCCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558767.6:c.*171_*172insTCCCAC	ENSP00000507680.1:n.*171_*172insTCCCAC
ENST00000682012.1:n.530+199_530+200insTCCCAC
ENST00000683593.1:n.2317_2318insTCCCAC
ENST00000684363.1:c.508_509insTCCCAC	ENSP00000507314.1:n.508_509insTCCCAC
ENST00000684569.1:n.500+199_500+200insTCCCAC
ENST00000561421.6:c.455+199_455+200insTCCCAC MANE Select	ENSP00000453347.2:n.455+199_455+200insTCCCAC
ENST00000646551.1:n.1942+199_1942+200insTCCCAC
ENST00000261755.9:c.455+199_455+200insTCCCAC	ENSP00000261755.5:n.455+199_455+200insTCCCAC
ENST00000407106.5:c.455+199_455+200insTCCCAC	ENSP00000385080.1:n.455+199_455+200insTCCCAC
ENST00000537726.5:n.800_801insTCCCAC
ENST00000539156.5:c.245+199_245+200insTCCCAC	ENSP00000454271.1:n.245+199_245+200insTCCCAC
ENST00000558022.5:c.455+199_455+200insTCCCAC	ENSP00000453152.1:n.455+199_455+200insTCCCAC
ENST00000558627.1:n.383+199_383+200insTCCCAC
ENST00000558767.5:n.915_916insTCCCAC
ENST00000561421.5:c.455+199_455+200insTCCCAC	ENSP00000453347.1:n.455+199_455+200insTCCCAC
NM_000137.2:c.455+199_455+200insTCCCAC	NP_000128.1:n.455+199_455+200insTCCCAC
XM_024449872.1:c.455+199_455+200insTCCCAC	XP_024305640.1:n.455+199_455+200insTCCCAC
NM_000137.4:c.455+199_455+200insTCCCAC MANE Select	NP_000128.1:n.455+199_455+200insTCCCAC
NM_001374377.1:c.455+199_455+200insTCCCAC	NP_001361306.1:n.455+199_455+200insTCCCAC
NM_001374380.1:c.455+199_455+200insTCCCAC	NP_001361309.1:n.455+199_455+200insTCCCAC