Canonical Allele Identifier: CA2793086015
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284924_89284925insACA , CM000673.2:g.89284924_89284925insACA GRCh38
NC_000011.9:g.89018092_89018093insACA , CM000673.1:g.89018092_89018093insACA GRCh37
NC_000011.8:g.88657740_88657741insACA NCBI36
NG_008748.1:g.112053_112054insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.1336_1337insACA MANE Select ENSP00000263321.4:p.Gly446delinsAspSer
ENST00000263321.5:c.1336_1337insACA ENSP00000263321.4:p.Gly446delinsAspSer
ENST00000528243.1:n.334_335insACA
NM_000372.4:c.1336_1337insACA NP_000363.1:p.Gly446delinsAspSer
XM_011542970.1:c.1336_1337insACA XP_011541272.1:p.Gly446delinsAspSer
XM_011542970.2:c.1336_1337insACA XP_011541272.1:p.Gly446delinsAspSer
XR_001748321.1:n.2456+1109_2456+1110insTGT
XR_001748322.1:n.2457+1109_2457+1110insTGT
NM_000372.5:c.1336_1337insACA MANE Select NP_000363.1:p.Gly446delinsAspSer