Canonical Allele Identifier: CA2615470502
Gene: TYR HGNC NCBI

Linked Data

gnomAD v4: 11-89178352-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178358del , CM000673.2:g.89178358del GRCh38
NC_000011.9:g.88911526del , CM000673.1:g.88911526del GRCh37
NC_000011.8:g.88551174del NCBI36
NG_008748.1:g.5487del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.405del MANE Select ENSP00000263321.4:p.Phe135LeufsTer6
ENST00000263321.5:c.405del ENSP00000263321.4:p.Phe135LeufsTer6
ENST00000526139.1:n.466del
NM_000372.4:c.405del NP_000363.1:p.Phe135LeufsTer6
XM_011542970.1:c.405del XP_011541272.1:p.Phe135LeufsTer6
XM_011542970.2:c.405del XP_011541272.1:p.Phe135LeufsTer6
XR_001748321.1:n.2718-64820del
XR_001748322.1:n.2733-64820del
NM_000372.5:c.405del MANE Select NP_000363.1:p.Phe135LeufsTer6
Search 100 bp 5'
Search 100 bp 3'