Canonical Allele Identifier: CA2793086090
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89285073_89285079del , CM000673.2:g.89285073_89285079del GRCh38
NC_000011.9:g.89018241_89018247del , CM000673.1:g.89018241_89018247del GRCh37
NC_000011.8:g.88657889_88657895del NCBI36
NG_008748.1:g.112202_112208del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+119_1366+125del MANE Select ENSP00000263321.4:n.1366+119_1366+125del
ENST00000263321.5:c.1366+119_1366+125del ENSP00000263321.4:n.1366+119_1366+125del
ENST00000528243.1:n.364+119_364+125del
NM_000372.4:c.1366+119_1366+125del NP_000363.1:n.1366+119_1366+125del
XM_011542970.1:c.1366+119_1366+125del XP_011541272.1:n.1366+119_1366+125del
XM_011542970.2:c.1366+119_1366+125del XP_011541272.1:n.1366+119_1366+125del
XR_001748321.1:n.2456+956_2456+962del
XR_001748322.1:n.2457+956_2457+962del
NM_000372.5:c.1366+119_1366+125del MANE Select NP_000363.1:n.1366+119_1366+125del