Canonical Allele Identifier: CA2793086109
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89285138_89285156del , CM000673.2:g.89285138_89285156del GRCh38
NC_000011.9:g.89018306_89018324del , CM000673.1:g.89018306_89018324del GRCh37
NC_000011.8:g.88657954_88657972del NCBI36
NG_008748.1:g.112267_112285del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+184_1366+202del MANE Select ENSP00000263321.4:n.1366+184_1366+202del
ENST00000263321.5:c.1366+184_1366+202del ENSP00000263321.4:n.1366+184_1366+202del
ENST00000528243.1:n.364+184_364+202del
NM_000372.4:c.1366+184_1366+202del NP_000363.1:n.1366+184_1366+202del
XM_011542970.1:c.1366+184_1366+202del XP_011541272.1:n.1366+184_1366+202del
XM_011542970.2:c.1366+184_1366+202del XP_011541272.1:n.1366+184_1366+202del
XR_001748321.1:n.2456+879_2456+897del
XR_001748322.1:n.2457+879_2457+897del
NM_000372.5:c.1366+184_1366+202del MANE Select NP_000363.1:n.1366+184_1366+202del