Canonical Allele Identifier: CA1989972723
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89285203_89285206delinsCAGA , CM000673.2:g.89285203_89285206delinsCAGA GRCh38
NC_000011.9:g.89018371_89018374delinsCAGA , CM000673.1:g.89018371_89018374delinsCAGA GRCh37
NC_000011.8:g.88658019_88658022delinsCAGA NCBI36
NG_008748.1:g.112332_112335delinsCAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+249_1366+252delinsCAGA MANE Select ENSP00000263321.4:n.1366+249_1366+252delinsCAGA
ENST00000263321.5:c.1366+249_1366+252delinsCAGA ENSP00000263321.4:n.1366+249_1366+252delinsCAGA
ENST00000528243.1:n.364+249_364+252delinsCAGA
NM_000372.4:c.1366+249_1366+252delinsCAGA NP_000363.1:n.1366+249_1366+252delinsCAGA
XM_011542970.1:c.1366+249_1366+252delinsCAGA XP_011541272.1:n.1366+249_1366+252delinsCAGA
XM_011542970.2:c.1366+249_1366+252delinsCAGA XP_011541272.1:n.1366+249_1366+252delinsCAGA
XR_001748321.1:n.2456+828_2456+831delinsTCTG
XR_001748322.1:n.2457+828_2457+831delinsTCTG
NM_000372.5:c.1366+249_1366+252delinsCAGA MANE Select NP_000363.1:n.1366+249_1366+252delinsCAGA