Canonical Allele Identifier: CA227544

Gene: TYR

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)

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