Canonical Allele Identifier: CA2793086051
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89285020_89285021del , CM000673.2:g.89285020_89285021del GRCh38
NC_000011.9:g.89018188_89018189del , CM000673.1:g.89018188_89018189del GRCh37
NC_000011.8:g.88657836_88657837del NCBI36
NG_008748.1:g.112149_112150del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+66_1366+67del MANE Select ENSP00000263321.4:n.1366+66_1366+67del
ENST00000263321.5:c.1366+66_1366+67del ENSP00000263321.4:n.1366+66_1366+67del
ENST00000528243.1:n.364+66_364+67del
NM_000372.4:c.1366+66_1366+67del NP_000363.1:n.1366+66_1366+67del
XM_011542970.1:c.1366+66_1366+67del XP_011541272.1:n.1366+66_1366+67del
XM_011542970.2:c.1366+66_1366+67del XP_011541272.1:n.1366+66_1366+67del
XR_001748321.1:n.2456+1016_2456+1017del
XR_001748322.1:n.2457+1016_2457+1017del
NM_000372.5:c.1366+66_1366+67del MANE Select NP_000363.1:n.1366+66_1366+67del