Canonical Allele Identifier: CA226650380

Gene: TYR

Linked Data

• dbSNP Id: rs941386065
• gnomAD v2: 11-89018379-GA-G
• gnomAD v3: 11-89285211-GA-G
• gnomAD v4: 11-89285211-GA-G
• MyVariant Identifiers: chr11:g.89018380del (hg19) ; chr11:g.89285212del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89285220del , CM000673.2:g.89285220del	GRCh38
NC_000011.9:g.89018388del , CM000673.1:g.89018388del	GRCh37
NC_000011.8:g.88658036del	NCBI36
NG_008748.1:g.112349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.1366+266del MANE Select	ENSP00000263321.4:n.1366+266del
ENST00000263321.5:c.1366+266del	ENSP00000263321.4:n.1366+266del
ENST00000528243.1:n.364+266del
NM_000372.4:c.1366+266del	NP_000363.1:n.1366+266del
XM_011542970.1:c.1366+266del	XP_011541272.1:n.1366+266del
XM_011542970.2:c.1366+266del	XP_011541272.1:n.1366+266del
XR_001748321.1:n.2456+822del
XR_001748322.1:n.2457+822del
NM_000372.5:c.1366+266del MANE Select	NP_000363.1:n.1366+266del