Canonical Allele Identifier: CA2793086114
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89285229del , CM000673.2:g.89285229del GRCh38
NC_000011.9:g.89018397del , CM000673.1:g.89018397del GRCh37
NC_000011.8:g.88658045del NCBI36
NG_008748.1:g.112358del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+275del MANE Select ENSP00000263321.4:n.1366+275del
ENST00000263321.5:c.1366+275del ENSP00000263321.4:n.1366+275del
ENST00000528243.1:n.364+275del
NM_000372.4:c.1366+275del NP_000363.1:n.1366+275del
XM_011542970.1:c.1366+275del XP_011541272.1:n.1366+275del
XM_011542970.2:c.1366+275del XP_011541272.1:n.1366+275del
XR_001748321.1:n.2456+805del
XR_001748322.1:n.2457+805del
NM_000372.5:c.1366+275del MANE Select NP_000363.1:n.1366+275del