Canonical Allele Identifier: CA2695215149
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178279del , CM000673.2:g.89178279del GRCh38
NC_000011.9:g.88911447del , CM000673.1:g.88911447del GRCh37
NC_000011.8:g.88551095del NCBI36
NG_008748.1:g.5408del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.326del MANE Select ENSP00000263321.4:p.Gly109AspfsTer11
ENST00000263321.5:c.326del ENSP00000263321.4:p.Gly109AspfsTer11
ENST00000526139.1:n.387del
NM_000372.4:c.326del NP_000363.1:p.Gly109AspfsTer11
XM_011542970.1:c.326del XP_011541272.1:p.Gly109AspfsTer11
XM_011542970.2:c.326del XP_011541272.1:p.Gly109AspfsTer11
XR_001748321.1:n.2718-64743del
XR_001748322.1:n.2733-64743del
NM_000372.5:c.326del MANE Select NP_000363.1:p.Gly109AspfsTer11