Canonical Allele Identifier: CA2793086045
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89285013_89285014del , CM000673.2:g.89285013_89285014del GRCh38
NC_000011.9:g.89018181_89018182del , CM000673.1:g.89018181_89018182del GRCh37
NC_000011.8:g.88657829_88657830del NCBI36
NG_008748.1:g.112142_112143del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+59_1366+60del MANE Select ENSP00000263321.4:n.1366+59_1366+60del
ENST00000263321.5:c.1366+59_1366+60del ENSP00000263321.4:n.1366+59_1366+60del
ENST00000528243.1:n.364+59_364+60del
NM_000372.4:c.1366+59_1366+60del NP_000363.1:n.1366+59_1366+60del
XM_011542970.1:c.1366+59_1366+60del XP_011541272.1:n.1366+59_1366+60del
XM_011542970.2:c.1366+59_1366+60del XP_011541272.1:n.1366+59_1366+60del
XR_001748321.1:n.2456+1022_2456+1023del
XR_001748322.1:n.2457+1022_2457+1023del
NM_000372.5:c.1366+59_1366+60del MANE Select NP_000363.1:n.1366+59_1366+60del