Canonical Allele Identifier: CA2615470499
Gene: TYR HGNC NCBI

Linked Data

gnomAD v4: 11-89178189-CGTGGCCTT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178190_89178197del , CM000673.2:g.89178190_89178197del GRCh38
NC_000011.9:g.88911358_88911365del , CM000673.1:g.88911358_88911365del GRCh37
NC_000011.8:g.88551006_88551013del NCBI36
NG_008748.1:g.5319_5326del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.237_244del MANE Select ENSP00000263321.4:p.Trp80ArgfsTer4
ENST00000263321.5:c.237_244del ENSP00000263321.4:p.Trp80ArgfsTer4
ENST00000526139.1:n.298_305del
NM_000372.4:c.237_244del NP_000363.1:p.Trp80ArgfsTer4
XM_011542970.1:c.237_244del XP_011541272.1:p.Trp80ArgfsTer4
XM_011542970.2:c.237_244del XP_011541272.1:p.Trp80ArgfsTer4
XR_001748321.1:n.2718-64664_2718-64657del
XR_001748322.1:n.2733-64664_2733-64657del
NM_000372.5:c.237_244del MANE Select NP_000363.1:p.Trp80ArgfsTer4
Search 100 bp 5'
Search 100 bp 3'