Canonical Allele Identifier: CA2793086024
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284983_89284984del , CM000673.2:g.89284983_89284984del GRCh38
NC_000011.9:g.89018151_89018152del , CM000673.1:g.89018151_89018152del GRCh37
NC_000011.8:g.88657799_88657800del NCBI36
NG_008748.1:g.112112_112113del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+29_1366+30del MANE Select ENSP00000263321.4:n.1366+29_1366+30del
ENST00000263321.5:c.1366+29_1366+30del ENSP00000263321.4:n.1366+29_1366+30del
ENST00000528243.1:n.364+29_364+30del
NM_000372.4:c.1366+29_1366+30del NP_000363.1:n.1366+29_1366+30del
XM_011542970.1:c.1366+29_1366+30del XP_011541272.1:n.1366+29_1366+30del
XM_011542970.2:c.1366+29_1366+30del XP_011541272.1:n.1366+29_1366+30del
XR_001748321.1:n.2456+1050_2456+1051del
XR_001748322.1:n.2457+1050_2457+1051del
NM_000372.5:c.1366+29_1366+30del MANE Select NP_000363.1:n.1366+29_1366+30del