Canonical Allele Identifier: CA940637275
Gene: TYR HGNC NCBI

Linked Data

dbSNP Id: rs1943251087
gnomAD v3: 11-89178222-AGTGCTCT-A
gnomAD v4: 11-89178222-AGTGCTCT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178224_89178230del , CM000673.2:g.89178224_89178230del GRCh38
NC_000011.9:g.88911392_88911398del , CM000673.1:g.88911392_88911398del GRCh37
NC_000011.8:g.88551040_88551046del NCBI36
NG_008748.1:g.5353_5359del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.271_277del MANE Select ENSP00000263321.4:p.Cys91AlafsTer27
ENST00000263321.5:c.271_277del ENSP00000263321.4:p.Cys91AlafsTer27
ENST00000526139.1:n.332_338del
NM_000372.4:c.271_277del NP_000363.1:p.Cys91AlafsTer27
XM_011542970.1:c.271_277del XP_011541272.1:p.Cys91AlafsTer27
XM_011542970.2:c.271_277del XP_011541272.1:p.Cys91AlafsTer27
XR_001748321.1:n.2718-64696_2718-64690del
XR_001748322.1:n.2733-64696_2733-64690del
NM_000372.5:c.271_277del MANE Select NP_000363.1:p.Cys91AlafsTer27
Search 100 bp 5'
Search 100 bp 3'