Canonical Allele Identifier: CA2793086107
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89285123_89285125del , CM000673.2:g.89285123_89285125del GRCh38
NC_000011.9:g.89018291_89018293del , CM000673.1:g.89018291_89018293del GRCh37
NC_000011.8:g.88657939_88657941del NCBI36
NG_008748.1:g.112252_112254del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+169_1366+171del MANE Select ENSP00000263321.4:n.1366+169_1366+171del
ENST00000263321.5:c.1366+169_1366+171del ENSP00000263321.4:n.1366+169_1366+171del
ENST00000528243.1:n.364+169_364+171del
NM_000372.4:c.1366+169_1366+171del NP_000363.1:n.1366+169_1366+171del
XM_011542970.1:c.1366+169_1366+171del XP_011541272.1:n.1366+169_1366+171del
XM_011542970.2:c.1366+169_1366+171del XP_011541272.1:n.1366+169_1366+171del
XR_001748321.1:n.2456+909_2456+911del
XR_001748322.1:n.2457+909_2457+911del
NM_000372.5:c.1366+169_1366+171del MANE Select NP_000363.1:n.1366+169_1366+171del