Canonical Allele Identifier: CA1989920909
Gene: TYR HGNC NCBI

Linked Data

dbSNP Id: rs1943259345

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178574_89178581del , CM000673.2:g.89178574_89178581del GRCh38
NC_000011.9:g.88911742_88911749del , CM000673.1:g.88911742_88911749del GRCh37
NC_000011.8:g.88551390_88551397del NCBI36
NG_008748.1:g.5703_5710del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.621_628del MANE Select ENSP00000263321.4:p.Phe207LeufsTer3
ENST00000263321.5:c.621_628del ENSP00000263321.4:p.Phe207LeufsTer3
ENST00000526139.1:n.682_689del
NM_000372.4:c.621_628del NP_000363.1:p.Phe207LeufsTer3
XM_011542970.1:c.621_628del XP_011541272.1:p.Phe207LeufsTer3
XM_011542970.2:c.621_628del XP_011541272.1:p.Phe207LeufsTer3
XR_001748321.1:n.2718-65046_2718-65039del
XR_001748322.1:n.2733-65046_2733-65039del
NM_000372.5:c.621_628del MANE Select NP_000363.1:p.Phe207LeufsTer3