Canonical Allele Identifier: CA2793087608
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178406_89178411del , CM000673.2:g.89178406_89178411del GRCh38
NC_000011.9:g.88911574_88911579del , CM000673.1:g.88911574_88911579del GRCh37
NC_000011.8:g.88551222_88551227del NCBI36
NG_008748.1:g.5535_5540del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.453_458del MANE Select ENSP00000263321.4:p.Pro152_Ile153del
ENST00000263321.5:c.453_458del ENSP00000263321.4:p.Pro152_Ile153del
ENST00000526139.1:n.514_519del
NM_000372.4:c.453_458del NP_000363.1:p.Pro152_Ile153del
XM_011542970.1:c.453_458del XP_011541272.1:p.Pro152_Ile153del
XM_011542970.2:c.453_458del XP_011541272.1:p.Pro152_Ile153del
XR_001748321.1:n.2718-64875_2718-64870del
XR_001748322.1:n.2733-64875_2733-64870del
NM_000372.5:c.453_458del MANE Select NP_000363.1:p.Pro152_Ile153del