Canonical Allele Identifier: CA2574945836
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284787_89284803del , CM000673.2:g.89284787_89284803del GRCh38
NC_000011.9:g.89017955_89017971del , CM000673.1:g.89017955_89017971del GRCh37
NC_000011.8:g.88657603_88657619del NCBI36
NG_008748.1:g.111916_111932del

Transcript Alleles

HGVS Amino-acid change
ENST00000263321.6:c.1199_1215del MANE Select ENSP00000263321.4:p.Trp400SerfsTer16
ENST00000263321.5:c.1199_1215del ENSP00000263321.4:p.Trp400SerfsTer16
ENST00000528243.1:n.197_213del
NM_000372.4:c.1199_1215del NP_000363.1:p.Trp400SerfsTer16
XM_011542970.1:c.1199_1215del XP_011541272.1:p.Trp400SerfsTer16
XM_011542970.2:c.1199_1215del XP_011541272.1:p.Trp400SerfsTer16
XR_001748321.1:n.2456+1233_2456+1249del
XR_001748322.1:n.2457+1233_2457+1249del
NM_000372.5:c.1199_1215del MANE Select NP_000363.1:p.Trp400SerfsTer16