Canonical Allele Identifier: CA227544
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 99554
ClinVar RCV Id: RCV000085935 RCV003460779
dbSNP Id: rs61753187
ExAC: 11:88911350 C / CGGG
gnomAD v2: 11-88911350-C-CGGG
gnomAD v3: 11-89178182-C-CGGG
gnomAD v4: 11-89178182-C-CGGG
MyVariant Identifiers: chr11:g.88911352_88911353insGGG (hg19) chr11:g.88911350_88911351insGGG (hg19) chr11:g.89178184_89178185insGGG (hg38) chr11:g.89178182_89178183insGGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178183_89178185dup , CM000673.2:g.89178183_89178185dup GRCh38
NC_000011.9:g.88911351_88911353dup , CM000673.1:g.88911351_88911353dup GRCh37
NC_000011.8:g.88550999_88551001dup NCBI36
NG_008748.1:g.5312_5314dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.230_232dup MANE Select ENSP00000263321.4:p.Arg77_Glu78insGly
ENST00000263321.5:c.230_232dup ENSP00000263321.4:p.Arg77_Glu78insGly
ENST00000526139.1:n.291_293dup
NM_000372.4:c.230_232dup NP_000363.1:p.Arg77_Glu78insGly
XM_011542970.1:c.230_232dup XP_011541272.1:p.Arg77_Glu78insGly
XM_011542970.2:c.230_232dup XP_011541272.1:p.Arg77_Glu78insGly
XR_001748321.1:n.2718-64652_2718-64650dup
XR_001748322.1:n.2733-64652_2733-64650dup
NM_000372.5:c.230_232dup MANE Select NP_000363.1:p.Arg77_Glu78insGly
Search 100 bp 5'
Search 100 bp 3'