Canonical Allele Identifier: CA6221203

Gene: TYR

Linked Data

• ClinVar Variation Id: 1974284
• ClinVar RCV Id: RCV002765547
• dbSNP Id: rs773765028
• ExAC: 11:88911950 GCTAGATATA / G
• gnomAD v2: 11-88911950-GCTAGATATA-G
• gnomAD v3: 11-89178782-GCTAGATATA-G
• gnomAD v4: 11-89178782-GCTAGATATA-G
• MyVariant Identifiers: chr11:g.88911951_88911959del (hg19) ; chr11:g.89178783_89178791del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178784_89178792del , CM000673.2:g.89178784_89178792del	GRCh38
NC_000011.9:g.88911952_88911960del , CM000673.1:g.88911952_88911960del	GRCh37
NC_000011.8:g.88551600_88551608del	NCBI36
NG_008748.1:g.5913_5921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.819+12_819+20del MANE Select	ENSP00000263321.4:n.819+12_819+20del
ENST00000263321.5:c.819+12_819+20del	ENSP00000263321.4:n.819+12_819+20del
ENST00000526139.1:n.880+12_880+20del
NM_000372.4:c.819+12_819+20del	NP_000363.1:n.819+12_819+20del
XM_011542970.1:c.819+12_819+20del	XP_011541272.1:n.819+12_819+20del
XM_011542970.2:c.819+12_819+20del	XP_011541272.1:n.819+12_819+20del
XR_001748321.1:n.2718-65258_2718-65250del
XR_001748322.1:n.2733-65258_2733-65250del
NM_000372.5:c.819+12_819+20del MANE Select	NP_000363.1:n.819+12_819+20del