Canonical Allele Identifier: CA2793086097
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89285082_89285083insACA , CM000673.2:g.89285082_89285083insACA GRCh38
NC_000011.9:g.89018250_89018251insACA , CM000673.1:g.89018250_89018251insACA GRCh37
NC_000011.8:g.88657898_88657899insACA NCBI36
NG_008748.1:g.112211_112212insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1366+128_1366+129insACA MANE Select ENSP00000263321.4:n.1366+128_1366+129insACA
ENST00000263321.5:c.1366+128_1366+129insACA ENSP00000263321.4:n.1366+128_1366+129insACA
ENST00000528243.1:n.364+128_364+129insACA
NM_000372.4:c.1366+128_1366+129insACA NP_000363.1:n.1366+128_1366+129insACA
XM_011542970.1:c.1366+128_1366+129insACA XP_011541272.1:n.1366+128_1366+129insACA
XM_011542970.2:c.1366+128_1366+129insACA XP_011541272.1:n.1366+128_1366+129insACA
XR_001748321.1:n.2456+951_2456+952insTGT
XR_001748322.1:n.2457+951_2457+952insTGT
NM_000372.5:c.1366+128_1366+129insACA MANE Select NP_000363.1:n.1366+128_1366+129insACA