Canonical Allele Identifier: CA2615470508
Gene: TYR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178485_89178504del , CM000673.2:g.89178485_89178504del GRCh38
NC_000011.9:g.88911653_88911672del , CM000673.1:g.88911653_88911672del GRCh37
NC_000011.8:g.88551301_88551320del NCBI36
NG_008748.1:g.5614_5633del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.532_551del MANE Select ENSP00000263321.4:p.Trp178AsnfsTer9
ENST00000263321.5:c.532_551del ENSP00000263321.4:p.Trp178AsnfsTer9
ENST00000526139.1:n.593_612del
NM_000372.4:c.532_551del NP_000363.1:p.Trp178AsnfsTer9
XM_011542970.1:c.532_551del XP_011541272.1:p.Trp178AsnfsTer9
XM_011542970.2:c.532_551del XP_011541272.1:p.Trp178AsnfsTer9
XR_001748321.1:n.2718-64967_2718-64948del
XR_001748322.1:n.2733-64967_2733-64948del
NM_000372.5:c.532_551del MANE Select NP_000363.1:p.Trp178AsnfsTer9