Canonical Allele Identifier: CA2793086058
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89285027_89285028del , CM000673.2:g.89285027_89285028del GRCh38
NC_000011.9:g.89018195_89018196del , CM000673.1:g.89018195_89018196del GRCh37
NC_000011.8:g.88657843_88657844del NCBI36
NG_008748.1:g.112156_112157del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+73_1366+74del MANE Select ENSP00000263321.4:n.1366+73_1366+74del
ENST00000263321.5:c.1366+73_1366+74del ENSP00000263321.4:n.1366+73_1366+74del
ENST00000528243.1:n.364+73_364+74del
NM_000372.4:c.1366+73_1366+74del NP_000363.1:n.1366+73_1366+74del
XM_011542970.1:c.1366+73_1366+74del XP_011541272.1:n.1366+73_1366+74del
XM_011542970.2:c.1366+73_1366+74del XP_011541272.1:n.1366+73_1366+74del
XR_001748321.1:n.2456+1007_2456+1008del
XR_001748322.1:n.2457+1007_2457+1008del
NM_000372.5:c.1366+73_1366+74del MANE Select NP_000363.1:n.1366+73_1366+74del