Canonical Allele Identifier: CA7691239

Gene: FAH

Linked Data

• dbSNP Id: rs757410040
• ExAC: 15:80460590 TCTGG / T
• gnomAD v2: 15-80460590-TCTGG-T
• gnomAD v3: 15-80168248-TCTGG-T
• gnomAD v4: 15-80168248-TCTGG-T
• MyVariant Identifiers: chr15:g.80460591_80460594del (hg19) ; chr15:g.80460591_80460596delinsTG (hg19) ; chr15:g.80168249_80168252del (hg38) ; chr15:g.80168249_80168254delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80168249_80168252del , CM000677.2:g.80168249_80168252del	GRCh38
NC_000015.9:g.80460591_80460594del , CM000677.1:g.80460591_80460594del	GRCh37
NC_000015.8:g.78247646_78247649del	NCBI36
NG_012833.1:g.20251_20254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.728_731del
ENST00000684569.1:n.599-15_599-12del
ENST00000561421.6:c.554-15_554-12del MANE Select	ENSP00000453347.2:n.554-15_554-12del
ENST00000646551.1:n.2181-15_2181-12del
ENST00000261755.9:c.554-15_554-12del	ENSP00000261755.5:n.554-15_554-12del
ENST00000407106.5:c.554-15_554-12del	ENSP00000385080.1:n.554-15_554-12del
ENST00000539156.5:c.344-15_344-12del	ENSP00000454271.1:n.344-15_344-12del
ENST00000558514.1:n.100-15_100-12del
ENST00000558627.1:n.482-15_482-12del
ENST00000561421.5:c.554-15_554-12del	ENSP00000453347.1:n.554-15_554-12del
NM_000137.2:c.554-15_554-12del	NP_000128.1:n.554-15_554-12del
XM_024449872.1:c.554-15_554-12del	XP_024305640.1:n.554-15_554-12del
NM_000137.4:c.554-15_554-12del MANE Select	NP_000128.1:n.554-15_554-12del
NM_001374377.1:c.554-15_554-12del	NP_001361306.1:n.554-15_554-12del
NM_001374380.1:c.554-15_554-12del	NP_001361309.1:n.554-15_554-12del