Canonical Allele Identifier: CA619271575

Gene: FAH

Linked Data

• dbSNP Id: rs1235860832
• gnomAD v2: 15-80472536-ACCT-A
• gnomAD v4: 15-80180194-ACCT-A
• MyVariant Identifiers: chr15:g.80472537_80472539del (hg19) ; chr15:g.80180195_80180197del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80180198_80180200del , CM000677.2:g.80180198_80180200del	GRCh38
NC_000015.9:g.80472540_80472542del , CM000677.1:g.80472540_80472542del	GRCh37
NC_000015.8:g.78259595_78259597del	NCBI36
NG_012833.1:g.32200_32202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1124_1126del
ENST00000561421.6:c.1035_1037del MANE Select	ENSP00000453347.2:p.Leu346del
ENST00000646551.1:n.2649_2651del
ENST00000261755.9:c.1035_1037del	ENSP00000261755.5:p.Leu346del
ENST00000407106.5:c.1035_1037del	ENSP00000385080.1:p.Leu346del
ENST00000539156.5:c.825_827del	ENSP00000454271.1:p.Leu276del
ENST00000559217.1:n.252_254del
ENST00000561353.2:c.133_135del
ENST00000561421.5:c.1035_1037del	ENSP00000453347.1:p.Leu346del
NM_000137.2:c.1035_1037del	NP_000128.1:p.Leu346del
XM_024449872.1:c.1035_1037del	XP_024305640.1:p.Leu346del
NM_000137.4:c.1035_1037del MANE Select	NP_000128.1:p.Leu346del
NM_001374377.1:c.1035_1037del	NP_001361306.1:p.Leu346del
NM_001374380.1:c.1035_1037del	NP_001361309.1:p.Leu346del