Canonical Allele Identifier: CA645533550
Gene: TPO HGNC NCBI

Linked Data

gnomAD v4: 2-1503974-CA-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.1503975del , CM000664.2:g.1503975del GRCh38
NC_000002.11:g.1507747del , CM000664.1:g.1507747del GRCh37
NC_000002.10:g.1486754del NCBI36
NG_011581.1:g.95513del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329066.9:c.2414del MANE Select ENSP00000329869.4:p.His805ProfsTer27
ENST00000329066.8:c.2414del ENSP00000329869.4:p.His805ProfsTer27
ENST00000345913.8:c.2414del ENSP00000318820.7:p.His805ProfsTer27
ENST00000346956.7:c.2386+7210del ENSP00000263886.6:n.2386+7210del
ENST00000382198.5:c.1895del ENSP00000371633.1:p.His632ProfsTer27
ENST00000382201.7:c.2243del ENSP00000371636.3:p.His748ProfsTer27
ENST00000422464.5:c.2173+7210del ENSP00000405788.1:n.2173+7210del
ENST00000425083.3:n.77del
ENST00000446278.5:c.838del
ENST00000462973.5:n.424+9936del
ENST00000469607.3:c.808+7210del ENSP00000419461.1:n.808+7210del
ENST00000497517.6:n.705del
NM_000547.5:c.2414del NP_000538.3:p.His805ProfsTer27
NM_001206744.1:c.2414del NP_001193673.1:p.His805ProfsTer27
NM_001206745.1:c.2243del NP_001193674.1:p.His748ProfsTer27
NM_175719.3:c.2243del NP_783650.1:p.His748ProfsTer27
NM_175721.3:c.2386+7210del NP_783652.1:n.2386+7210del
NM_175722.3:c.1895del NP_783653.1:p.His632ProfsTer27
XM_011510379.1:c.2386+7210del XP_011508681.1:n.2386+7210del
XM_011510380.1:c.2414del XP_011508682.1:p.His805ProfsTer27
XM_011510381.1:c.2215+7210del XP_011508683.1:n.2215+7210del
XR_922681.1:n.2415del
XM_011510380.3:c.2450del XP_011508682.2:p.His817ProfsTer27
XM_024453085.1:c.2422+7210del XP_024308853.1:n.2422+7210del
XM_024453086.1:c.2450del XP_024308854.1:p.His817ProfsTer27
XM_024453087.1:c.2386+7210del XP_024308855.1:n.2386+7210del
XM_024453088.1:c.2386+7210del XP_024308856.1:n.2386+7210del
XM_024453089.1:c.2386+7210del XP_024308857.1:n.2386+7210del
XM_024453090.1:c.2422+7210del XP_024308858.1:n.2422+7210del
XM_024453091.1:c.2279del XP_024308859.1:p.His760ProfsTer27
XM_024453092.1:c.2251+7210del XP_024308860.1:n.2251+7210del
XM_024453093.1:c.1931del XP_024308861.1:p.His644ProfsTer27
NM_001206744.2:c.2414del MANE Select NP_001193673.1:p.His805ProfsTer27
NM_000547.6:c.2414del NP_000538.3:p.His805ProfsTer27
NM_001206745.2:c.2243del NP_001193674.1:p.His748ProfsTer27
NM_175719.4:c.2243del NP_783650.1:p.His748ProfsTer27