Canonical Allele Identifier: CA601191350

Gene: TYR

Linked Data

• dbSNP Id: rs1233789645
• gnomAD v2: 11-88911443-TGG-T
• gnomAD v3: 11-89178275-TGG-T
• gnomAD v4: 11-89178275-TGG-T
• MyVariant Identifiers: chr11:g.88911444_88911445del (hg19) ; chr11:g.89178276_89178277del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178278_89178279del , CM000673.2:g.89178278_89178279del	GRCh38
NC_000011.9:g.88911446_88911447del , CM000673.1:g.88911446_88911447del	GRCh37
NC_000011.8:g.88551094_88551095del	NCBI36
NG_008748.1:g.5407_5408del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.325_326del MANE Select	ENSP00000263321.4:p.Gly109ThrfsTer?
ENST00000263321.5:c.325_326del	ENSP00000263321.4:p.Gly109ThrfsTer?
ENST00000526139.1:n.386_387del
NM_000372.4:c.325_326del	NP_000363.1:p.Gly109ThrfsTer?
XM_011542970.1:c.325_326del	XP_011541272.1:p.Gly109ThrfsTer?
XM_011542970.2:c.325_326del	XP_011541272.1:p.Gly109ThrfsTer?
XR_001748321.1:n.2718-64744_2718-64743del
XR_001748322.1:n.2733-64744_2733-64743del
NM_000372.5:c.325_326del MANE Select	NP_000363.1:p.Gly109ThrfsTer?