Canonical Allele Identifier: CA2190340930
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80177584_80177615delinsGTAAGCTTTGACGCTGATCAGACTGCTTTTTA , CM000677.2:g.80177584_80177615delinsGTAAGCTTTGACGCTGATCAGACTGCTTTTTA GRCh38
NC_000015.9:g.80469926_80469957delinsGTAAGCTTTGACGCTGATCAGACTGCTTTTTA , CM000677.1:g.80469926_80469957delinsGTAAGCTTTGACGCTGATCAGACTGCTTTTTA GRCh37
NC_000015.8:g.78256981_78257012delinsGTAAGCTTTGACGCTGATCAGACTGCTTTTTA NCBI36
NG_012833.1:g.29586_29617delinsGTAAGCTTTGACGCTGATCAGACTGCTTTTTA

Transcript Alleles

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