Canonical Allele Identifier: CA2740093171
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 2993081
ClinVar RCV Id: RCV003850176
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178184_89178185delinsCT , CM000673.2:g.89178184_89178185delinsCT GRCh38
NC_000011.9:g.88911352_88911353delinsCT , CM000673.1:g.88911352_88911353delinsCT GRCh37
NC_000011.8:g.88551000_88551001delinsCT NCBI36
NG_008748.1:g.5313_5314delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.231_232delinsCT MANE Select ENSP00000263321.4:p.Arg78Ter
ENST00000263321.5:c.231_232delinsCT ENSP00000263321.4:p.Arg78Ter
ENST00000526139.1:n.292_293delinsCT
NM_000372.4:c.231_232delinsCT NP_000363.1:p.Arg78Ter
XM_011542970.1:c.231_232delinsCT XP_011541272.1:p.Arg78Ter
XM_011542970.2:c.231_232delinsCT XP_011541272.1:p.Arg78Ter
XR_001748321.1:n.2718-64652_2718-64651delinsAG
XR_001748322.1:n.2733-64652_2733-64651delinsAG
NM_000372.5:c.231_232delinsCT MANE Select NP_000363.1:p.Arg78Ter
Search 100 bp 5'
Search 100 bp 3'