Canonical Allele Identifier: CA2695198945
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 2679406
ClinVar RCV Id: RCV003464763
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178219_89178220delinsAA , CM000673.2:g.89178219_89178220delinsAA GRCh38
NC_000011.9:g.88911387_88911388delinsAA , CM000673.1:g.88911387_88911388delinsAA GRCh37
NC_000011.8:g.88551035_88551036delinsAA NCBI36
NG_008748.1:g.5348_5349delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.266_267delinsAA MANE Select ENSP00000263321.4:p.Cys89Ter
ENST00000263321.5:c.266_267delinsAA ENSP00000263321.4:p.Cys89Ter
ENST00000526139.1:n.327_328delinsAA
NM_000372.4:c.266_267delinsAA NP_000363.1:p.Cys89Ter
XM_011542970.1:c.266_267delinsAA XP_011541272.1:p.Cys89Ter
XM_011542970.2:c.266_267delinsAA XP_011541272.1:p.Cys89Ter
XR_001748321.1:n.2718-64687_2718-64686delinsTT
XR_001748322.1:n.2733-64687_2733-64686delinsTT
NM_000372.5:c.266_267delinsAA MANE Select NP_000363.1:p.Cys89Ter
Search 100 bp 5'
Search 100 bp 3'