Canonical Allele Identifier: CA2580616401

Gene: TYR

Linked Data

• ClinVar Variation Id: 2570807
• ClinVar RCV Id: RCV003312208

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178254_89178262delinsA , CM000673.2:g.89178254_89178262delinsA	GRCh38
NC_000011.9:g.88911422_88911430delinsA , CM000673.1:g.88911422_88911430delinsA	GRCh37
NC_000011.8:g.88551070_88551078delinsA	NCBI36
NG_008748.1:g.5383_5391delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.301_309delinsA MANE Select	ENSP00000263321.4:p.Gly101LysfsTer?
ENST00000263321.5:c.301_309delinsA	ENSP00000263321.4:p.Gly101LysfsTer?
ENST00000526139.1:n.362_370delinsA
NM_000372.4:c.301_309delinsA	NP_000363.1:p.Gly101LysfsTer?
XM_011542970.1:c.301_309delinsA	XP_011541272.1:p.Gly101LysfsTer?
XM_011542970.2:c.301_309delinsA	XP_011541272.1:p.Gly101LysfsTer?
XR_001748321.1:n.2718-64729_2718-64721delinsT
XR_001748322.1:n.2733-64729_2733-64721delinsT
NM_000372.5:c.301_309delinsA MANE Select	NP_000363.1:p.Gly101LysfsTer?