Canonical Allele Identifier: CA2793087779
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178900_89178902del , CM000673.2:g.89178900_89178902del GRCh38
NC_000011.9:g.88912068_88912070del , CM000673.1:g.88912068_88912070del GRCh37
NC_000011.8:g.88551716_88551718del NCBI36
NG_008748.1:g.6029_6031del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.819+128_819+130del MANE Select ENSP00000263321.4:n.819+128_819+130del
ENST00000263321.5:c.819+128_819+130del ENSP00000263321.4:n.819+128_819+130del
ENST00000526139.1:n.880+128_880+130del
NM_000372.4:c.819+128_819+130del NP_000363.1:n.819+128_819+130del
XM_011542970.1:c.819+128_819+130del XP_011541272.1:n.819+128_819+130del
XM_011542970.2:c.819+128_819+130del XP_011541272.1:n.819+128_819+130del
XR_001748321.1:n.2718-65369_2718-65367del
XR_001748322.1:n.2733-65369_2733-65367del
NM_000372.5:c.819+128_819+130del MANE Select NP_000363.1:n.819+128_819+130del