Canonical Allele Identifier: CA2695215150
Gene: TYR HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178287del , CM000673.2:g.89178287del GRCh38
NC_000011.9:g.88911455del , CM000673.1:g.88911455del GRCh37
NC_000011.8:g.88551103del NCBI36
NG_008748.1:g.5416del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.334del MANE Select ENSP00000263321.4:p.Cys112AlafsTer8
ENST00000263321.5:c.334del ENSP00000263321.4:p.Cys112AlafsTer8
ENST00000526139.1:n.395del
NM_000372.4:c.334del NP_000363.1:p.Cys112AlafsTer8
XM_011542970.1:c.334del XP_011541272.1:p.Cys112AlafsTer8
XM_011542970.2:c.334del XP_011541272.1:p.Cys112AlafsTer8
XR_001748321.1:n.2718-64754del
XR_001748322.1:n.2733-64754del
NM_000372.5:c.334del MANE Select NP_000363.1:p.Cys112AlafsTer8
Search 100 bp 5'
Search 100 bp 3'