Canonical Allele Identifier: CA2615470501
Gene: TYR HGNC NCBI

Linked Data

gnomAD v4: 11-89178254-G-GGAAACTGCAAGTTTGGCTTTTGGGGAC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178255_89178281dup , CM000673.2:g.89178255_89178281dup GRCh38
NC_000011.9:g.88911423_88911449dup , CM000673.1:g.88911423_88911449dup GRCh37
NC_000011.8:g.88551071_88551097dup NCBI36
NG_008748.1:g.5384_5410dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.302_328dup MANE Select ENSP00000263321.4:p.Gly109_Pro110insArgAsnCysLysPheGlyPheTrpG...
ENST00000263321.5:c.302_328dup ENSP00000263321.4:p.Gly109_Pro110insArgAsnCysLysPheGlyPheTrpG...
ENST00000526139.1:n.363_389dup
NM_000372.4:c.302_328dup NP_000363.1:p.Gly109_Pro110insArgAsnCysLysPheGlyPheTrpGly
XM_011542970.1:c.302_328dup XP_011541272.1:p.Gly109_Pro110insArgAsnCysLysPheGlyPheTrpGly
XM_011542970.2:c.302_328dup XP_011541272.1:p.Gly109_Pro110insArgAsnCysLysPheGlyPheTrpGly
XR_001748321.1:n.2718-64748_2718-64722dup
XR_001748322.1:n.2733-64748_2733-64722dup
NM_000372.5:c.302_328dup MANE Select NP_000363.1:p.Gly109_Pro110insArgAsnCysLysPheGlyPheTrpGly
Search 100 bp 5'
Search 100 bp 3'