Canonical Allele Identifier: CA2793086031
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284998_89284999del , CM000673.2:g.89284998_89284999del GRCh38
NC_000011.9:g.89018166_89018167del , CM000673.1:g.89018166_89018167del GRCh37
NC_000011.8:g.88657814_88657815del NCBI36
NG_008748.1:g.112127_112128del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+44_1366+45del MANE Select ENSP00000263321.4:n.1366+44_1366+45del
ENST00000263321.5:c.1366+44_1366+45del ENSP00000263321.4:n.1366+44_1366+45del
ENST00000528243.1:n.364+44_364+45del
NM_000372.4:c.1366+44_1366+45del NP_000363.1:n.1366+44_1366+45del
XM_011542970.1:c.1366+44_1366+45del XP_011541272.1:n.1366+44_1366+45del
XM_011542970.2:c.1366+44_1366+45del XP_011541272.1:n.1366+44_1366+45del
XR_001748321.1:n.2456+1035_2456+1036del
XR_001748322.1:n.2457+1035_2457+1036del
NM_000372.5:c.1366+44_1366+45del MANE Select NP_000363.1:n.1366+44_1366+45del