Canonical Allele Identifier: CA2793086102
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89285093_89285096del , CM000673.2:g.89285093_89285096del GRCh38
NC_000011.9:g.89018261_89018264del , CM000673.1:g.89018261_89018264del GRCh37
NC_000011.8:g.88657909_88657912del NCBI36
NG_008748.1:g.112222_112225del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+139_1366+142del MANE Select ENSP00000263321.4:n.1366+139_1366+142del
ENST00000263321.5:c.1366+139_1366+142del ENSP00000263321.4:n.1366+139_1366+142del
ENST00000528243.1:n.364+139_364+142del
NM_000372.4:c.1366+139_1366+142del NP_000363.1:n.1366+139_1366+142del
XM_011542970.1:c.1366+139_1366+142del XP_011541272.1:n.1366+139_1366+142del
XM_011542970.2:c.1366+139_1366+142del XP_011541272.1:n.1366+139_1366+142del
XR_001748321.1:n.2456+938_2456+941del
XR_001748322.1:n.2457+938_2457+941del
NM_000372.5:c.1366+139_1366+142del MANE Select NP_000363.1:n.1366+139_1366+142del