Canonical Allele Identifier: CA2793087760
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178886del , CM000673.2:g.89178886del GRCh38
NC_000011.9:g.88912054del , CM000673.1:g.88912054del GRCh37
NC_000011.8:g.88551702del NCBI36
NG_008748.1:g.6015del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.819+114del MANE Select ENSP00000263321.4:n.819+114del
ENST00000263321.5:c.819+114del ENSP00000263321.4:n.819+114del
ENST00000526139.1:n.880+114del
NM_000372.4:c.819+114del NP_000363.1:n.819+114del
XM_011542970.1:c.819+114del XP_011541272.1:n.819+114del
XM_011542970.2:c.819+114del XP_011541272.1:n.819+114del
XR_001748321.1:n.2718-65353del
XR_001748322.1:n.2733-65353del
NM_000372.5:c.819+114del MANE Select NP_000363.1:n.819+114del