Canonical Allele Identifier: CA2793087781
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178903_89178906del , CM000673.2:g.89178903_89178906del GRCh38
NC_000011.9:g.88912071_88912074del , CM000673.1:g.88912071_88912074del GRCh37
NC_000011.8:g.88551719_88551722del NCBI36
NG_008748.1:g.6032_6035del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.819+131_819+134del MANE Select ENSP00000263321.4:n.819+131_819+134del
ENST00000263321.5:c.819+131_819+134del ENSP00000263321.4:n.819+131_819+134del
ENST00000526139.1:n.880+131_880+134del
NM_000372.4:c.819+131_819+134del NP_000363.1:n.819+131_819+134del
XM_011542970.1:c.819+131_819+134del XP_011541272.1:n.819+131_819+134del
XM_011542970.2:c.819+131_819+134del XP_011541272.1:n.819+131_819+134del
XR_001748321.1:n.2718-65372_2718-65369del
XR_001748322.1:n.2733-65372_2733-65369del
NM_000372.5:c.819+131_819+134del MANE Select NP_000363.1:n.819+131_819+134del