Canonical Allele Identifier: CA2574945837
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284809_89284812del , CM000673.2:g.89284809_89284812del GRCh38
NC_000011.9:g.89017977_89017980del , CM000673.1:g.89017977_89017980del GRCh37
NC_000011.8:g.88657625_88657628del NCBI36
NG_008748.1:g.111938_111941del

Transcript Alleles

HGVS Amino-acid change
ENST00000263321.6:c.1221_1224del MANE Select ENSP00000263321.4:p.Gln408LysfsTer?
ENST00000263321.5:c.1221_1224del ENSP00000263321.4:p.Gln408LysfsTer?
ENST00000528243.1:n.219_222del
NM_000372.4:c.1221_1224del NP_000363.1:p.Gln408LysfsTer?
XM_011542970.1:c.1221_1224del XP_011541272.1:p.Gln408LysfsTer?
XM_011542970.2:c.1221_1224del XP_011541272.1:p.Gln408LysfsTer?
XR_001748321.1:n.2456+1222_2456+1225del
XR_001748322.1:n.2457+1222_2457+1225del
NM_000372.5:c.1221_1224del MANE Select NP_000363.1:p.Gln408LysfsTer?