Canonical Allele Identifier: CA2793086061
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89285032_89285033del , CM000673.2:g.89285032_89285033del GRCh38
NC_000011.9:g.89018200_89018201del , CM000673.1:g.89018200_89018201del GRCh37
NC_000011.8:g.88657848_88657849del NCBI36
NG_008748.1:g.112161_112162del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+78_1366+79del MANE Select ENSP00000263321.4:n.1366+78_1366+79del
ENST00000263321.5:c.1366+78_1366+79del ENSP00000263321.4:n.1366+78_1366+79del
ENST00000528243.1:n.364+78_364+79del
NM_000372.4:c.1366+78_1366+79del NP_000363.1:n.1366+78_1366+79del
XM_011542970.1:c.1366+78_1366+79del XP_011541272.1:n.1366+78_1366+79del
XM_011542970.2:c.1366+78_1366+79del XP_011541272.1:n.1366+78_1366+79del
XR_001748321.1:n.2456+1001_2456+1002del
XR_001748322.1:n.2457+1001_2457+1002del
NM_000372.5:c.1366+78_1366+79del MANE Select NP_000363.1:n.1366+78_1366+79del