Canonical Allele Identifier: CA2793086096
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89285083_89285094del , CM000673.2:g.89285083_89285094del GRCh38
NC_000011.9:g.89018251_89018262del , CM000673.1:g.89018251_89018262del GRCh37
NC_000011.8:g.88657899_88657910del NCBI36
NG_008748.1:g.112212_112223del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+129_1366+140del MANE Select ENSP00000263321.4:n.1366+129_1366+140del
ENST00000263321.5:c.1366+129_1366+140del ENSP00000263321.4:n.1366+129_1366+140del
ENST00000528243.1:n.364+129_364+140del
NM_000372.4:c.1366+129_1366+140del NP_000363.1:n.1366+129_1366+140del
XM_011542970.1:c.1366+129_1366+140del XP_011541272.1:n.1366+129_1366+140del
XM_011542970.2:c.1366+129_1366+140del XP_011541272.1:n.1366+129_1366+140del
XR_001748321.1:n.2456+941_2456+952del
XR_001748322.1:n.2457+941_2457+952del
NM_000372.5:c.1366+129_1366+140del MANE Select NP_000363.1:n.1366+129_1366+140del