Canonical Allele Identifier: CA6221186

Gene: TYR

Linked Data

• dbSNP Id: rs762249667
• ExAC: 11:88911855 A / ATGAGTACAGATGAGTACT
• gnomAD v2: 11-88911855-A-ATGAGTACAGATGAGTACT
• gnomAD v3: 11-89178687-A-ATGAGTACAGATGAGTACT
• gnomAD v4: 11-89178687-A-ATGAGTACAGATGAGTACT
• MyVariant Identifiers: chr11:g.88911855_88911856insTGAGTACAGATGAGTACT (hg19) ; chr11:g.89178687_89178688insTGAGTACAGATGAGTACT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178687_89178688insTGAGTACAGATGAGTACT , CM000673.2:g.89178687_89178688insTGAGTACAGATGAGTACT	GRCh38
NC_000011.9:g.88911855_88911856insTGAGTACAGATGAGTACT , CM000673.1:g.88911855_88911856insTGAGTACAGATGAGTACT	GRCh37
NC_000011.8:g.88551503_88551504insTGAGTACAGATGAGTACT	NCBI36
NG_008748.1:g.5816_5817insTGAGTACAGATGAGTACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.734_735insTGAGTACAGATGAGTACT MANE Select	ENSP00000263321.4:p.Asp246GlufsTer4
ENST00000263321.5:c.734_735insTGAGTACAGATGAGTACT	ENSP00000263321.4:p.Asp246GlufsTer4
ENST00000526139.1:n.795_796insTGAGTACAGATGAGTACT
NM_000372.4:c.734_735insTGAGTACAGATGAGTACT	NP_000363.1:p.Asp246GlufsTer4
XM_011542970.1:c.734_735insTGAGTACAGATGAGTACT	XP_011541272.1:p.Asp246GlufsTer4
XM_011542970.2:c.734_735insTGAGTACAGATGAGTACT	XP_011541272.1:p.Asp246GlufsTer4
XR_001748321.1:n.2718-65155_2718-65154insAGTACTCATCTGTACTCA
XR_001748322.1:n.2733-65155_2733-65154insAGTACTCATCTGTACTCA
NM_000372.5:c.734_735insTGAGTACAGATGAGTACT MANE Select	NP_000363.1:p.Asp246GlufsTer4