Canonical Allele Identifier: CA2793086044
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89285010_89285011del , CM000673.2:g.89285010_89285011del GRCh38
NC_000011.9:g.89018178_89018179del , CM000673.1:g.89018178_89018179del GRCh37
NC_000011.8:g.88657826_88657827del NCBI36
NG_008748.1:g.112139_112140del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+56_1366+57del MANE Select ENSP00000263321.4:n.1366+56_1366+57del
ENST00000263321.5:c.1366+56_1366+57del ENSP00000263321.4:n.1366+56_1366+57del
ENST00000528243.1:n.364+56_364+57del
NM_000372.4:c.1366+56_1366+57del NP_000363.1:n.1366+56_1366+57del
XM_011542970.1:c.1366+56_1366+57del XP_011541272.1:n.1366+56_1366+57del
XM_011542970.2:c.1366+56_1366+57del XP_011541272.1:n.1366+56_1366+57del
XR_001748321.1:n.2456+1023_2456+1024del
XR_001748322.1:n.2457+1023_2457+1024del
NM_000372.5:c.1366+56_1366+57del MANE Select NP_000363.1:n.1366+56_1366+57del