Canonical Allele Identifier: CA971898487

Gene: FAH

Linked Data

• dbSNP Id: rs2041295392
• gnomAD v3: 15-80177584-GTAAGCTTTGACGCTGATCAGACTGCTTTTTA-G
• gnomAD v4: 15-80177584-GTAAGCTTTGACGCTGATCAGACTGCTTTTTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80177585_80177615del , CM000677.2:g.80177585_80177615del	GRCh38
NC_000015.9:g.80469927_80469957del , CM000677.1:g.80469927_80469957del	GRCh37
NC_000015.8:g.78256982_78257012del	NCBI36
NG_012833.1:g.29587_29617del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682012.1:n.1049+2_1049+32del
ENST00000561421.6:c.960+2_960+32del MANE Select	ENSP00000453347.2:n.960+2_960+32del
ENST00000646551.1:n.2574+2_2574+32del
ENST00000261755.9:c.960+2_960+32del	ENSP00000261755.5:n.960+2_960+32del
ENST00000407106.5:c.960+2_960+32del	ENSP00000385080.1:n.960+2_960+32del
ENST00000539156.5:c.750+2_750+32del	ENSP00000454271.1:n.750+2_750+32del
ENST00000559217.1:n.177+2_177+32del
ENST00000561353.2:c.58+2_58+32del
ENST00000561421.5:c.960+2_960+32del	ENSP00000453347.1:n.960+2_960+32del
NM_000137.2:c.960+2_960+32del	NP_000128.1:n.960+2_960+32del
XM_024449872.1:c.960+2_960+32del	XP_024305640.1:n.960+2_960+32del
NM_000137.4:c.960+2_960+32del MANE Select	NP_000128.1:n.960+2_960+32del
NM_001374377.1:c.960+2_960+32del	NP_001361306.1:n.960+2_960+32del
NM_001374380.1:c.960+2_960+32del	NP_001361309.1:n.960+2_960+32del