Canonical Allele Identifier: CA6221194
Gene: TYR HGNC NCBI

Linked Data

dbSNP Id: rs770344763
ExAC: 11:88911929 T / TC
gnomAD v2: 11-88911929-T-TC
gnomAD v4: 11-89178761-T-TC
MyVariant Identifiers: chr11:g.88911929_88911930insC (hg19) chr11:g.89178761_89178762insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178763dup , CM000673.2:g.89178763dup GRCh38
NC_000011.9:g.88911931dup , CM000673.1:g.88911931dup GRCh37
NC_000011.8:g.88551579dup NCBI36
NG_008748.1:g.5892dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.810dup MANE Select ENSP00000263321.4:p.Ser271LeufsTer7
ENST00000263321.5:c.810dup ENSP00000263321.4:p.Ser271LeufsTer7
ENST00000526139.1:n.871dup
NM_000372.4:c.810dup NP_000363.1:p.Ser271LeufsTer7
XM_011542970.1:c.810dup XP_011541272.1:p.Ser271LeufsTer7
XM_011542970.2:c.810dup XP_011541272.1:p.Ser271LeufsTer7
XR_001748321.1:n.2718-65229dup
XR_001748322.1:n.2733-65229dup
NM_000372.5:c.810dup MANE Select NP_000363.1:p.Ser271LeufsTer7
Search 100 bp 5'
Search 100 bp 3'