Canonical Allele Identifier: CA2793086047
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89285015_89285018del , CM000673.2:g.89285015_89285018del GRCh38
NC_000011.9:g.89018183_89018186del , CM000673.1:g.89018183_89018186del GRCh37
NC_000011.8:g.88657831_88657834del NCBI36
NG_008748.1:g.112144_112147del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+61_1366+64del MANE Select ENSP00000263321.4:n.1366+61_1366+64del
ENST00000263321.5:c.1366+61_1366+64del ENSP00000263321.4:n.1366+61_1366+64del
ENST00000528243.1:n.364+61_364+64del
NM_000372.4:c.1366+61_1366+64del NP_000363.1:n.1366+61_1366+64del
XM_011542970.1:c.1366+61_1366+64del XP_011541272.1:n.1366+61_1366+64del
XM_011542970.2:c.1366+61_1366+64del XP_011541272.1:n.1366+61_1366+64del
XR_001748321.1:n.2456+1016_2456+1019del
XR_001748322.1:n.2457+1016_2457+1019del
NM_000372.5:c.1366+61_1366+64del MANE Select NP_000363.1:n.1366+61_1366+64del