Canonical Allele Identifier: CA2793087792
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178919_89178921del , CM000673.2:g.89178919_89178921del GRCh38
NC_000011.9:g.88912087_88912089del , CM000673.1:g.88912087_88912089del GRCh37
NC_000011.8:g.88551735_88551737del NCBI36
NG_008748.1:g.6048_6050del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.819+147_819+149del MANE Select ENSP00000263321.4:n.819+147_819+149del
ENST00000263321.5:c.819+147_819+149del ENSP00000263321.4:n.819+147_819+149del
ENST00000526139.1:n.880+147_880+149del
NM_000372.4:c.819+147_819+149del NP_000363.1:n.819+147_819+149del
XM_011542970.1:c.819+147_819+149del XP_011541272.1:n.819+147_819+149del
XM_011542970.2:c.819+147_819+149del XP_011541272.1:n.819+147_819+149del
XR_001748321.1:n.2718-65387_2718-65385del
XR_001748322.1:n.2733-65387_2733-65385del
NM_000372.5:c.819+147_819+149del MANE Select NP_000363.1:n.819+147_819+149del