Canonical Allele Identifier: CA1989920780
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178530_89178531delinsGA , CM000673.2:g.89178530_89178531delinsGA GRCh38
NC_000011.9:g.88911698_88911699delinsGA , CM000673.1:g.88911698_88911699delinsGA GRCh37
NC_000011.8:g.88551346_88551347delinsGA NCBI36
NG_008748.1:g.5659_5660delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.577_578delinsGA MANE Select ENSP00000263321.4:p.Glu193=
ENST00000263321.5:c.577_578delinsGA ENSP00000263321.4:p.Glu193=
ENST00000526139.1:n.638_639delinsGA
NM_000372.4:c.577_578delinsGA NP_000363.1:p.Glu193=
XM_011542970.1:c.577_578delinsGA XP_011541272.1:p.Glu193=
XM_011542970.2:c.577_578delinsGA XP_011541272.1:p.Glu193=
XR_001748321.1:n.2718-64998_2718-64997delinsTC
XR_001748322.1:n.2733-64998_2733-64997delinsTC
NM_000372.5:c.577_578delinsGA MANE Select NP_000363.1:p.Glu193=