Canonical Allele Identifier: CA1989919656
Gene: TYR HGNC NCBI

Linked Data

dbSNP Id: rs1943250838
gnomAD v4: 11-89178213-GGAC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178214_89178216del , CM000673.2:g.89178214_89178216del GRCh38
NC_000011.9:g.88911382_88911384del , CM000673.1:g.88911382_88911384del GRCh37
NC_000011.8:g.88551030_88551032del NCBI36
NG_008748.1:g.5343_5345del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.261_263del MANE Select ENSP00000263321.4:p.Arg87_Thr88delinsSer
ENST00000263321.5:c.261_263del ENSP00000263321.4:p.Arg87_Thr88delinsSer
ENST00000526139.1:n.322_324del
NM_000372.4:c.261_263del NP_000363.1:p.Arg87_Thr88delinsSer
XM_011542970.1:c.261_263del XP_011541272.1:p.Arg87_Thr88delinsSer
XM_011542970.2:c.261_263del XP_011541272.1:p.Arg87_Thr88delinsSer
XR_001748321.1:n.2718-64683_2718-64681del
XR_001748322.1:n.2733-64683_2733-64681del
NM_000372.5:c.261_263del MANE Select NP_000363.1:p.Arg87_Thr88delinsSer
Search 100 bp 5'
Search 100 bp 3'