Canonical Allele Identifier: CA2565613555
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178552_89178553insCATT , CM000673.2:g.89178552_89178553insCATT GRCh38
NC_000011.9:g.88911720_88911721insCATT , CM000673.1:g.88911720_88911721insCATT GRCh37
NC_000011.8:g.88551368_88551369insCATT NCBI36
NG_008748.1:g.5681_5682insCATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.599_600insCATT MANE Select ENSP00000263321.4:p.Ala201IlefsTer4
ENST00000263321.5:c.599_600insCATT ENSP00000263321.4:p.Ala201IlefsTer4
ENST00000526139.1:n.660_661insCATT
NM_000372.4:c.599_600insCATT NP_000363.1:p.Ala201IlefsTer4
XM_011542970.1:c.599_600insCATT XP_011541272.1:p.Ala201IlefsTer4
XM_011542970.2:c.599_600insCATT XP_011541272.1:p.Ala201IlefsTer4
XR_001748321.1:n.2718-65018_2718-65017insTGAA
XR_001748322.1:n.2733-65018_2733-65017insTGAA
NM_000372.5:c.599_600insCATT MANE Select NP_000363.1:p.Ala201IlefsTer4