Canonical Allele Identifier: CA2793086110
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89285160_89285172del , CM000673.2:g.89285160_89285172del GRCh38
NC_000011.9:g.89018328_89018340del , CM000673.1:g.89018328_89018340del GRCh37
NC_000011.8:g.88657976_88657988del NCBI36
NG_008748.1:g.112289_112301del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+206_1366+218del MANE Select ENSP00000263321.4:n.1366+206_1366+218del
ENST00000263321.5:c.1366+206_1366+218del ENSP00000263321.4:n.1366+206_1366+218del
ENST00000528243.1:n.364+206_364+218del
NM_000372.4:c.1366+206_1366+218del NP_000363.1:n.1366+206_1366+218del
XM_011542970.1:c.1366+206_1366+218del XP_011541272.1:n.1366+206_1366+218del
XM_011542970.2:c.1366+206_1366+218del XP_011541272.1:n.1366+206_1366+218del
XR_001748321.1:n.2456+862_2456+874del
XR_001748322.1:n.2457+862_2457+874del
NM_000372.5:c.1366+206_1366+218del MANE Select NP_000363.1:n.1366+206_1366+218del