Canonical Allele Identifier: CA2793086089
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89285069_89285073del , CM000673.2:g.89285069_89285073del GRCh38
NC_000011.9:g.89018237_89018241del , CM000673.1:g.89018237_89018241del GRCh37
NC_000011.8:g.88657885_88657889del NCBI36
NG_008748.1:g.112198_112202del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+115_1366+119del MANE Select ENSP00000263321.4:n.1366+115_1366+119del
ENST00000263321.5:c.1366+115_1366+119del ENSP00000263321.4:n.1366+115_1366+119del
ENST00000528243.1:n.364+115_364+119del
NM_000372.4:c.1366+115_1366+119del NP_000363.1:n.1366+115_1366+119del
XM_011542970.1:c.1366+115_1366+119del XP_011541272.1:n.1366+115_1366+119del
XM_011542970.2:c.1366+115_1366+119del XP_011541272.1:n.1366+115_1366+119del
XR_001748321.1:n.2456+961_2456+965del
XR_001748322.1:n.2457+961_2457+965del
NM_000372.5:c.1366+115_1366+119del MANE Select NP_000363.1:n.1366+115_1366+119del