Canonical Allele Identifier: CA1989971769
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89284805_89284808delinsCTCT , CM000673.2:g.89284805_89284808delinsCTCT GRCh38
NC_000011.9:g.89017973_89017976delinsCTCT , CM000673.1:g.89017973_89017976delinsCTCT GRCh37
NC_000011.8:g.88657621_88657624delinsCTCT NCBI36
NG_008748.1:g.111934_111937delinsCTCT

Transcript Alleles

HGVS Amino-acid change
ENST00000263321.6:c.1217_1220delinsCTCT MANE Select ENSP00000263321.4:p.Pro406=
ENST00000263321.5:c.1217_1220delinsCTCT ENSP00000263321.4:p.Pro406=
ENST00000528243.1:n.215_218delinsCTCT
NM_000372.4:c.1217_1220delinsCTCT NP_000363.1:p.Pro406=
XM_011542970.1:c.1217_1220delinsCTCT XP_011541272.1:p.Pro406=
XM_011542970.2:c.1217_1220delinsCTCT XP_011541272.1:p.Pro406=
XR_001748321.1:n.2456+1226_2456+1229delinsAGAG
XR_001748322.1:n.2457+1226_2457+1229delinsAGAG
NM_000372.5:c.1217_1220delinsCTCT MANE Select NP_000363.1:p.Pro406=