Canonical Allele Identifier: CA6221179

Gene: TYR

Linked Data

• dbSNP Id: rs772184078
• ExAC: 11:88911845 G / GTCCC
• gnomAD v2: 11-88911845-G-GTCCC
• gnomAD v3: 11-89178677-G-GTCCC
• gnomAD v4: 11-89178677-G-GTCCC
• MyVariant Identifiers: chr11:g.88911845_88911846insTCCC (hg19) ; chr11:g.89178677_89178678insTCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178677_89178678insTCCC , CM000673.2:g.89178677_89178678insTCCC	GRCh38
NC_000011.9:g.88911845_88911846insTCCC , CM000673.1:g.88911845_88911846insTCCC	GRCh37
NC_000011.8:g.88551493_88551494insTCCC	NCBI36
NG_008748.1:g.5806_5807insTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.724_725insTCCC MANE Select	ENSP00000263321.4:p.Glu242ValfsTer5
ENST00000263321.5:c.724_725insTCCC	ENSP00000263321.4:p.Glu242ValfsTer5
ENST00000526139.1:n.785_786insTCCC
NM_000372.4:c.724_725insTCCC	NP_000363.1:p.Glu242ValfsTer5
XM_011542970.1:c.724_725insTCCC	XP_011541272.1:p.Glu242ValfsTer5
XM_011542970.2:c.724_725insTCCC	XP_011541272.1:p.Glu242ValfsTer5
XR_001748321.1:n.2718-65145_2718-65144insGGGA
XR_001748322.1:n.2733-65145_2733-65144insGGGA
NM_000372.5:c.724_725insTCCC MANE Select	NP_000363.1:p.Glu242ValfsTer5