Canonical Allele Identifier: CA227561

Gene: TYR

Linked Data

• ClinVar Variation Id: 99564
• ClinVar RCV Id: RCV000085947 ; RCV003460781
• dbSNP Id: rs61753255
• gnomAD v4: 11-89178291-CAG-C
• MyVariant Identifiers: chr11:g.88911461_88911462del (hg19) ; chr11:g.88911460_88911461del (hg19) ; chr11:g.89178293_89178294del (hg38) ; chr11:g.89178292_89178293del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178297_89178298del , CM000673.2:g.89178297_89178298del	GRCh38
NC_000011.9:g.88911465_88911466del , CM000673.1:g.88911465_88911466del	GRCh37
NC_000011.8:g.88551113_88551114del	NCBI36
NG_008748.1:g.5426_5427del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.344_345del MANE Select	ENSP00000263321.4:p.Arg115ThrfsTer?
ENST00000263321.5:c.344_345del	ENSP00000263321.4:p.Arg115ThrfsTer?
ENST00000526139.1:n.405_406del
NM_000372.4:c.344_345del	NP_000363.1:p.Arg115ThrfsTer?
XM_011542970.1:c.344_345del	XP_011541272.1:p.Arg115ThrfsTer?
XM_011542970.2:c.344_345del	XP_011541272.1:p.Arg115ThrfsTer?
XR_001748321.1:n.2718-64760_2718-64759del
XR_001748322.1:n.2733-64760_2733-64759del
NM_000372.5:c.344_345del MANE Select	NP_000363.1:p.Arg115ThrfsTer?