Canonical Allele Identifier: CA2697547786

Gene: TPO

Linked Data

• ClinVar Variation Id: 2765529
• ClinVar RCV Id: RCV003578359

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1477338_1477345dup , CM000664.2:g.1477338_1477345dup	GRCh38
NC_000002.11:g.1481110_1481117dup , CM000664.1:g.1481110_1481117dup	GRCh37
NC_000002.10:g.1460117_1460124dup	NCBI36
NG_011581.1:g.68876_68883dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329066.9:c.1072_1079dup MANE Select	ENSP00000329869.4:p.Arg361ThrfsTer?
ENST00000329066.8:c.1072_1079dup	ENSP00000329869.4:p.Arg361ThrfsTer?
ENST00000345913.8:c.1072_1079dup	ENSP00000318820.7:p.Arg361ThrfsTer?
ENST00000346956.7:c.1072_1079dup	ENSP00000263886.6:p.Arg361ThrfsTer?
ENST00000382198.5:c.820-7258_820-7251dup	ENSP00000371633.1:n.820-7258_820-7251dup
ENST00000382201.7:c.1072_1079dup	ENSP00000371636.3:p.Arg361ThrfsTer?
ENST00000422464.5:c.859_866dup	ENSP00000405788.1:p.Arg290ThrfsTer?
ENST00000497517.6:n.181-7258_181-7251dup
NM_000547.5:c.1072_1079dup	NP_000538.3:p.Arg361ThrfsTer?
NM_001206744.1:c.1072_1079dup	NP_001193673.1:p.Arg361ThrfsTer?
NM_001206745.1:c.1072_1079dup	NP_001193674.1:p.Arg361ThrfsTer?
NM_175719.3:c.1072_1079dup	NP_783650.1:p.Arg361ThrfsTer?
NM_175721.3:c.1072_1079dup	NP_783652.1:p.Arg361ThrfsTer?
NM_175722.3:c.820-7258_820-7251dup	NP_783653.1:n.820-7258_820-7251dup
XM_011510379.1:c.1072_1079dup	XP_011508681.1:p.Arg361ThrfsTer?
XM_011510380.1:c.1072_1079dup	XP_011508682.1:p.Arg361ThrfsTer?
XM_011510381.1:c.1072_1079dup	XP_011508683.1:p.Arg361ThrfsTer?
XM_011510382.1:c.1072_1079dup	XP_011508684.1:p.Arg361ThrfsTer?
XR_922681.1:n.1073_1080dup
XM_011510380.3:c.1108_1115dup	XP_011508682.2:p.Arg373ThrfsTer?
XM_024453085.1:c.1108_1115dup	XP_024308853.1:p.Arg373ThrfsTer?
XM_024453086.1:c.1108_1115dup	XP_024308854.1:p.Arg373ThrfsTer?
XM_024453087.1:c.1072_1079dup	XP_024308855.1:p.Arg361ThrfsTer?
XM_024453088.1:c.1072_1079dup	XP_024308856.1:p.Arg361ThrfsTer?
XM_024453089.1:c.1072_1079dup	XP_024308857.1:p.Arg361ThrfsTer?
XM_024453090.1:c.1108_1115dup	XP_024308858.1:p.Arg373ThrfsTer?
XM_024453091.1:c.1108_1115dup	XP_024308859.1:p.Arg373ThrfsTer?
XM_024453092.1:c.1108_1115dup	XP_024308860.1:p.Arg373ThrfsTer?
XM_024453093.1:c.856-7258_856-7251dup	XP_024308861.1:n.856-7258_856-7251dup
NM_001206744.2:c.1072_1079dup MANE Select	NP_001193673.1:p.Arg361ThrfsTer?
NM_000547.6:c.1072_1079dup	NP_000538.3:p.Arg361ThrfsTer?
NM_001206745.2:c.1072_1079dup	NP_001193674.1:p.Arg361ThrfsTer?
NM_175719.4:c.1072_1079dup	NP_783650.1:p.Arg361ThrfsTer?