Canonical Allele Identifier: CA658683693
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 493101
ClinVar RCV Id: RCV000585060
dbSNP Id: rs1555099590
MyVariant Identifiers: chr11:g.89018093_89018104del (hg19) chr11:g.89284925_89284936del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284930_89284941del , CM000673.2:g.89284930_89284941del GRCh38
NC_000011.9:g.89018098_89018109del , CM000673.1:g.89018098_89018109del GRCh37
NC_000011.8:g.88657746_88657757del NCBI36
NG_008748.1:g.112059_112070del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1342_1353del MANE Select ENSP00000263321.4:p.Asp448_Tyr451del
ENST00000263321.5:c.1342_1353del ENSP00000263321.4:p.Asp448_Tyr451del
ENST00000528243.1:n.340_351del
NM_000372.4:c.1342_1353del NP_000363.1:p.Asp448_Tyr451del
XM_011542970.1:c.1342_1353del XP_011541272.1:p.Asp448_Tyr451del
XM_011542970.2:c.1342_1353del XP_011541272.1:p.Asp448_Tyr451del
XR_001748321.1:n.2456+1098_2456+1109del
XR_001748322.1:n.2457+1098_2457+1109del
NM_000372.5:c.1342_1353del MANE Select NP_000363.1:p.Asp448_Tyr451del
Search 100 bp 5'
Search 100 bp 3'