Canonical Allele Identifier: CA2629875002

Gene: FAH

Linked Data

• gnomAD v4: 15-80167988-TTAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80167989_80167991del , CM000677.2:g.80167989_80167991del	GRCh38
NC_000015.9:g.80460331_80460333del , CM000677.1:g.80460331_80460333del	GRCh37
NC_000015.8:g.78247386_78247388del	NCBI36
NG_012833.1:g.19991_19993del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.531-63_531-61del
ENST00000684569.1:n.501-63_501-61del
ENST00000561421.6:c.456-63_456-61del MANE Select	ENSP00000453347.2:n.456-63_456-61del
ENST00000646551.1:n.2083-63_2083-61del
ENST00000261755.9:c.456-63_456-61del	ENSP00000261755.5:n.456-63_456-61del
ENST00000407106.5:c.456-63_456-61del	ENSP00000385080.1:n.456-63_456-61del
ENST00000539156.5:c.246-63_246-61del	ENSP00000454271.1:n.246-63_246-61del
ENST00000558022.5:c.456-63_456-61del	ENSP00000453152.1:n.456-63_456-61del
ENST00000558627.1:n.384-63_384-61del
ENST00000561421.5:c.456-63_456-61del	ENSP00000453347.1:n.456-63_456-61del
NM_000137.2:c.456-63_456-61del	NP_000128.1:n.456-63_456-61del
XM_024449872.1:c.456-63_456-61del	XP_024305640.1:n.456-63_456-61del
NM_000137.4:c.456-63_456-61del MANE Select	NP_000128.1:n.456-63_456-61del
NM_001374377.1:c.456-63_456-61del	NP_001361306.1:n.456-63_456-61del
NM_001374380.1:c.456-63_456-61del	NP_001361309.1:n.456-63_456-61del