Canonical Allele Identifier: CA656702829
Gene: FAH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152877_80152878insA , CM000677.2:g.80152877_80152878insA GRCh38
NC_000015.9:g.80445219_80445220insA , CM000677.1:g.80445219_80445220insA GRCh37
NC_000015.8:g.78232274_78232275insA NCBI36
NG_012833.1:g.4879_4880insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-178_-177insA ENSP00000507680.1:n.-178_-177insA
ENST00000261755.9:c.-30+36_-30+37insA ENSP00000261755.5:n.-30+36_-30+37insA
ENST00000407106.5:c.-58_-57insA ENSP00000385080.1:n.-58_-57insA
ENST00000537726.5:n.53+36_53+37insA
ENST00000558022.5:c.-29-149_-29-148insA ENSP00000453152.1:n.-29-149_-29-148insA
ENST00000558767.5:n.84_85insA
ENST00000561369.1:n.23_24insA
XM_024449872.1:c.-58_-57insA XP_024305640.1:n.-58_-57insA
NM_001374377.1:c.-58_-57insA NP_001361306.1:n.-58_-57insA
NM_001374380.1:c.-30+36_-30+37insA NP_001361309.1:n.-30+36_-30+37insA