Canonical Allele Identifier: CA716081492

Gene: FAH

Linked Data

• dbSNP Id: rs1437662158
• gnomAD v3: 15-80185998-ATG-A
• gnomAD v4: 15-80185998-ATG-A
• MyVariant Identifiers: chr15:g.80478341_80478342del (hg19) ; chr15:g.80185999_80186000del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80186007_80186008del , CM000677.2:g.80186007_80186008del	GRCh38
NC_000015.9:g.80478349_80478350del , CM000677.1:g.80478349_80478350del	GRCh37
NC_000015.8:g.78265404_78265405del	NCBI36
NG_012833.1:g.38009_38010del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1270-123_1270-122del
ENST00000561421.6:c.1181-123_1181-122del MANE Select	ENSP00000453347.2:n.1181-123_1181-122del
ENST00000646551.1:n.2795-123_2795-122del
ENST00000261755.9:c.1181-123_1181-122del	ENSP00000261755.5:n.1181-123_1181-122del
ENST00000407106.5:c.1181-123_1181-122del	ENSP00000385080.1:n.1181-123_1181-122del
ENST00000539156.5:c.971-123_971-122del	ENSP00000454271.1:n.971-123_971-122del
ENST00000559217.1:n.398-123_398-122del
ENST00000561421.5:c.1181-123_1181-122del	ENSP00000453347.1:n.1181-123_1181-122del
NM_000137.2:c.1181-123_1181-122del	NP_000128.1:n.1181-123_1181-122del
XM_024449872.1:c.1181-123_1181-122del	XP_024305640.1:n.1181-123_1181-122del
NM_000137.4:c.1181-123_1181-122del MANE Select	NP_000128.1:n.1181-123_1181-122del
NM_001374377.1:c.1181-123_1181-122del	NP_001361306.1:n.1181-123_1181-122del
NM_001374380.1:c.1181-123_1181-122del	NP_001361309.1:n.1181-123_1181-122del