Canonical Allele Identifier: CA2580085021

Gene: TYR

Linked Data

• ClinVar Variation Id: 2103421
• ClinVar RCV Id: RCV003037931 ; RCV003459703

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.89178771_89178773delinsTTT , CM000673.2:g.89178771_89178773delinsTTT	GRCh38
NC_000011.9:g.88911939_88911941delinsTTT , CM000673.1:g.88911939_88911941delinsTTT	GRCh37
NC_000011.8:g.88551587_88551589delinsTTT	NCBI36
NG_008748.1:g.5900_5902delinsTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263321.6:c.818_819+1delinsTTT
ENST00000263321.5:c.818_819+1delinsTTT
ENST00000526139.1:n.879_880+1delinsTTT
NM_000372.4:c.818_819+1delinsTTT
XM_011542970.1:c.818_819+1delinsTTT
XM_011542970.2:c.818_819+1delinsTTT
XR_001748321.1:n.2718-65240_2718-65238delinsAAA
XR_001748322.1:n.2733-65240_2733-65238delinsAAA
NM_000372.5:c.818_819+1delinsTTT