Canonical Allele Identifier: CA1989920102
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178339_89178342delinsCAGA , CM000673.2:g.89178339_89178342delinsCAGA GRCh38
NC_000011.9:g.88911507_88911510delinsCAGA , CM000673.1:g.88911507_88911510delinsCAGA GRCh37
NC_000011.8:g.88551155_88551158delinsCAGA NCBI36
NG_008748.1:g.5468_5471delinsCAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.386_389delinsCAGA MANE Select ENSP00000263321.4:p.Pro129=
ENST00000263321.5:c.386_389delinsCAGA ENSP00000263321.4:p.Pro129=
ENST00000526139.1:n.447_450delinsCAGA
NM_000372.4:c.386_389delinsCAGA NP_000363.1:p.Pro129=
XM_011542970.1:c.386_389delinsCAGA XP_011541272.1:p.Pro129=
XM_011542970.2:c.386_389delinsCAGA XP_011541272.1:p.Pro129=
XR_001748321.1:n.2718-64809_2718-64806delinsTCTG
XR_001748322.1:n.2733-64809_2733-64806delinsTCTG
NM_000372.5:c.386_389delinsCAGA MANE Select NP_000363.1:p.Pro129=