Canonical Allele Identifier: CA2629875535

Gene: FAH

Linked Data

• gnomAD v4: 15-80168248-T-TTC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168248_80168249insTC , CM000677.2:g.80168248_80168249insTC	GRCh38
NC_000015.9:g.80460590_80460591insTC , CM000677.1:g.80460590_80460591insTC	GRCh37
NC_000015.8:g.78247645_78247646insTC	NCBI36
NG_012833.1:g.20250_20251insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.727_728insTC
ENST00000684569.1:n.599-16_599-15insTC
ENST00000561421.6:c.554-16_554-15insTC MANE Select	ENSP00000453347.2:n.554-16_554-15insTC
ENST00000646551.1:n.2181-16_2181-15insTC
ENST00000261755.9:c.554-16_554-15insTC	ENSP00000261755.5:n.554-16_554-15insTC
ENST00000407106.5:c.554-16_554-15insTC	ENSP00000385080.1:n.554-16_554-15insTC
ENST00000539156.5:c.344-16_344-15insTC	ENSP00000454271.1:n.344-16_344-15insTC
ENST00000558514.1:n.100-16_100-15insTC
ENST00000558627.1:n.482-16_482-15insTC
ENST00000561421.5:c.554-16_554-15insTC	ENSP00000453347.1:n.554-16_554-15insTC
NM_000137.2:c.554-16_554-15insTC	NP_000128.1:n.554-16_554-15insTC
XM_024449872.1:c.554-16_554-15insTC	XP_024305640.1:n.554-16_554-15insTC
NM_000137.4:c.554-16_554-15insTC MANE Select	NP_000128.1:n.554-16_554-15insTC
NM_001374377.1:c.554-16_554-15insTC	NP_001361306.1:n.554-16_554-15insTC
NM_001374380.1:c.554-16_554-15insTC	NP_001361309.1:n.554-16_554-15insTC