Canonical Allele Identifier: CA619271352

Gene: FAH

Linked Data

• dbSNP Id: rs1414280883
• gnomAD v2: 15-80472177-T-TGG
• gnomAD v3: 15-80179835-T-TGG
• gnomAD v4: 15-80179835-T-TGG
• MyVariant Identifiers: chr15:g.80472177_80472178insGG (hg19) ; chr15:g.80179835_80179836insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80179835_80179836insGG , CM000677.2:g.80179835_80179836insGG	GRCh38
NC_000015.9:g.80472177_80472178insGG , CM000677.1:g.80472177_80472178insGG	GRCh37
NC_000015.8:g.78259232_78259233insGG	NCBI36
NG_012833.1:g.31837_31838insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1050-289_1050-288insGG
ENST00000561421.6:c.961-289_961-288insGG MANE Select	ENSP00000453347.2:n.961-289_961-288insGG
ENST00000646551.1:n.2575-289_2575-288insGG
ENST00000261755.9:c.961-289_961-288insGG	ENSP00000261755.5:n.961-289_961-288insGG
ENST00000407106.5:c.961-289_961-288insGG	ENSP00000385080.1:n.961-289_961-288insGG
ENST00000539156.5:c.751-289_751-288insGG	ENSP00000454271.1:n.751-289_751-288insGG
ENST00000559217.1:n.178-289_178-288insGG
ENST00000561353.2:c.59-289_59-288insGG
ENST00000561421.5:c.961-289_961-288insGG	ENSP00000453347.1:n.961-289_961-288insGG
NM_000137.2:c.961-289_961-288insGG	NP_000128.1:n.961-289_961-288insGG
XM_024449872.1:c.961-289_961-288insGG	XP_024305640.1:n.961-289_961-288insGG
NM_000137.4:c.961-289_961-288insGG MANE Select	NP_000128.1:n.961-289_961-288insGG
NM_001374377.1:c.961-289_961-288insGG	NP_001361306.1:n.961-289_961-288insGG
NM_001374380.1:c.961-289_961-288insGG	NP_001361309.1:n.961-289_961-288insGG