Canonical Allele Identifier: CA2793086108
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89285128del , CM000673.2:g.89285128del GRCh38
NC_000011.9:g.89018296del , CM000673.1:g.89018296del GRCh37
NC_000011.8:g.88657944del NCBI36
NG_008748.1:g.112257del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+174del MANE Select ENSP00000263321.4:n.1366+174del
ENST00000263321.5:c.1366+174del ENSP00000263321.4:n.1366+174del
ENST00000528243.1:n.364+174del
NM_000372.4:c.1366+174del NP_000363.1:n.1366+174del
XM_011542970.1:c.1366+174del XP_011541272.1:n.1366+174del
XM_011542970.2:c.1366+174del XP_011541272.1:n.1366+174del
XR_001748321.1:n.2456+907del
XR_001748322.1:n.2457+907del
NM_000372.5:c.1366+174del MANE Select NP_000363.1:n.1366+174del