Canonical Allele Identifier: CA2596753652

Gene: FAH

Linked Data

• gnomAD v3: 15-80179979-ACTGGAGAGAGCTGG-A
• gnomAD v4: 15-80179979-ACTGGAGAGAGCTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80179984_80179997del , CM000677.2:g.80179984_80179997del	GRCh38
NC_000015.9:g.80472326_80472339del , CM000677.1:g.80472326_80472339del	GRCh37
NC_000015.8:g.78259381_78259394del	NCBI36
NG_012833.1:g.31986_31999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1050-140_1050-127del
ENST00000561421.6:c.961-140_961-127del MANE Select	ENSP00000453347.2:n.961-140_961-127del
ENST00000646551.1:n.2575-140_2575-127del
ENST00000261755.9:c.961-140_961-127del	ENSP00000261755.5:n.961-140_961-127del
ENST00000407106.5:c.961-140_961-127del	ENSP00000385080.1:n.961-140_961-127del
ENST00000539156.5:c.751-140_751-127del	ENSP00000454271.1:n.751-140_751-127del
ENST00000559217.1:n.178-140_178-127del
ENST00000561353.2:c.59-140_59-127del
ENST00000561421.5:c.961-140_961-127del	ENSP00000453347.1:n.961-140_961-127del
NM_000137.2:c.961-140_961-127del	NP_000128.1:n.961-140_961-127del
XM_024449872.1:c.961-140_961-127del	XP_024305640.1:n.961-140_961-127del
NM_000137.4:c.961-140_961-127del MANE Select	NP_000128.1:n.961-140_961-127del
NM_001374377.1:c.961-140_961-127del	NP_001361306.1:n.961-140_961-127del
NM_001374380.1:c.961-140_961-127del	NP_001361309.1:n.961-140_961-127del