Canonical Allele Identifier: CA2615470498
Gene: TYR HGNC NCBI

Linked Data

gnomAD v4: 11-89178188-T-TCGTG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178189_89178192dup , CM000673.2:g.89178189_89178192dup GRCh38
NC_000011.9:g.88911357_88911360dup , CM000673.1:g.88911357_88911360dup GRCh37
NC_000011.8:g.88551005_88551008dup NCBI36
NG_008748.1:g.5318_5321dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.236_239dup MANE Select ENSP00000263321.4:p.Trp80CysfsTer8
ENST00000263321.5:c.236_239dup ENSP00000263321.4:p.Trp80CysfsTer8
ENST00000526139.1:n.297_300dup
NM_000372.4:c.236_239dup NP_000363.1:p.Trp80CysfsTer8
XM_011542970.1:c.236_239dup XP_011541272.1:p.Trp80CysfsTer8
XM_011542970.2:c.236_239dup XP_011541272.1:p.Trp80CysfsTer8
XR_001748321.1:n.2718-64659_2718-64656dup
XR_001748322.1:n.2733-64659_2733-64656dup
NM_000372.5:c.236_239dup MANE Select NP_000363.1:p.Trp80CysfsTer8
Search 100 bp 5'
Search 100 bp 3'