Canonical Allele Identifier: CA601191355

Gene: TYR

Linked Data

• ClinVar Variation Id: 2735727
• ClinVar RCV Id: RCV003557655
• dbSNP Id: rs1413355871
• gnomAD v2: 11-88911899-CCTAA-C
• gnomAD v4: 11-89178731-CCTAA-C
• MyVariant Identifiers: chr11:g.88911900_88911903del (hg19) ; chr11:g.89178732_89178735del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178734_89178737del , CM000673.2:g.89178734_89178737del	GRCh38
NC_000011.9:g.88911902_88911905del , CM000673.1:g.88911902_88911905del	GRCh37
NC_000011.8:g.88551550_88551553del	NCBI36
NG_008748.1:g.5863_5866del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.781_784del MANE Select	ENSP00000263321.4:p.Asn261TyrfsTer?
ENST00000263321.5:c.781_784del	ENSP00000263321.4:p.Asn261TyrfsTer?
ENST00000526139.1:n.842_845del
NM_000372.4:c.781_784del	NP_000363.1:p.Asn261TyrfsTer?
XM_011542970.1:c.781_784del	XP_011541272.1:p.Asn261TyrfsTer?
XM_011542970.2:c.781_784del	XP_011541272.1:p.Asn261TyrfsTer?
XR_001748321.1:n.2718-65202_2718-65199del
XR_001748322.1:n.2733-65202_2733-65199del
NM_000372.5:c.781_784del MANE Select	NP_000363.1:p.Asn261TyrfsTer?