Canonical Allele Identifier: CA1511672

Gene: TPO

Linked Data

• ClinVar Variation Id: 429301
• ClinVar RCV Id: RCV000494448 ; RCV000779280 ; RCV003932797
• dbSNP Id: rs763941231
• ExAC: 2:1481219 A / ACGGC
• gnomAD v2: 2-1481219-A-ACGGC
• gnomAD v3: 2-1477447-A-ACGGC
• gnomAD v4: 2-1477447-A-ACGGC
• MyVariant Identifiers: chr2:g.1481222_1481225dup (hg19) ; chr2:g.1481219_1481220insCGGC (hg19) ; chr2:g.1477450_1477453dup (hg38) ; chr2:g.1477447_1477448insCGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1477450_1477453dup , CM000664.2:g.1477450_1477453dup	GRCh38
NC_000002.11:g.1481222_1481225dup , CM000664.1:g.1481222_1481225dup	GRCh37
NC_000002.10:g.1460229_1460232dup	NCBI36
NG_011581.1:g.68988_68991dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000329066.9:c.1184_1187dup MANE Select	ENSP00000329869.4:p.Ala397ProfsTer?
ENST00000329066.8:c.1184_1187dup	ENSP00000329869.4:p.Ala397ProfsTer?
ENST00000345913.8:c.1184_1187dup	ENSP00000318820.7:p.Ala397ProfsTer?
ENST00000346956.7:c.1184_1187dup	ENSP00000263886.6:p.Ala397ProfsTer?
ENST00000382198.5:c.820-7146_820-7143dup	ENSP00000371633.1:n.820-7146_820-7143dup
ENST00000382201.7:c.1184_1187dup	ENSP00000371636.3:p.Ala397ProfsTer?
ENST00000422464.5:c.971_974dup	ENSP00000405788.1:p.Ala326ProfsTer?
ENST00000497517.6:n.181-7146_181-7143dup
NM_000547.5:c.1184_1187dup	NP_000538.3:p.Ala397ProfsTer?
NM_001206744.1:c.1184_1187dup	NP_001193673.1:p.Ala397ProfsTer?
NM_001206745.1:c.1184_1187dup	NP_001193674.1:p.Ala397ProfsTer?
NM_175719.3:c.1184_1187dup	NP_783650.1:p.Ala397ProfsTer?
NM_175721.3:c.1184_1187dup	NP_783652.1:p.Ala397ProfsTer?
NM_175722.3:c.820-7146_820-7143dup	NP_783653.1:n.820-7146_820-7143dup
XM_011510379.1:c.1184_1187dup	XP_011508681.1:p.Ala397ProfsTer?
XM_011510380.1:c.1184_1187dup	XP_011508682.1:p.Ala397ProfsTer?
XM_011510381.1:c.1184_1187dup	XP_011508683.1:p.Ala397ProfsTer?
XM_011510382.1:c.1184_1187dup	XP_011508684.1:p.Ala397ProfsTer?
XR_922681.1:n.1185_1188dup
XM_011510380.3:c.1220_1223dup	XP_011508682.2:p.Ala409ProfsTer?
XM_024453085.1:c.1220_1223dup	XP_024308853.1:p.Ala409ProfsTer?
XM_024453086.1:c.1220_1223dup	XP_024308854.1:p.Ala409ProfsTer?
XM_024453087.1:c.1184_1187dup	XP_024308855.1:p.Ala397ProfsTer?
XM_024453088.1:c.1184_1187dup	XP_024308856.1:p.Ala397ProfsTer?
XM_024453089.1:c.1184_1187dup	XP_024308857.1:p.Ala397ProfsTer?
XM_024453090.1:c.1220_1223dup	XP_024308858.1:p.Ala409ProfsTer?
XM_024453091.1:c.1220_1223dup	XP_024308859.1:p.Ala409ProfsTer?
XM_024453092.1:c.1220_1223dup	XP_024308860.1:p.Ala409ProfsTer?
XM_024453093.1:c.856-7146_856-7143dup	XP_024308861.1:n.856-7146_856-7143dup
NM_001206744.2:c.1184_1187dup MANE Select	NP_001193673.1:p.Ala397ProfsTer?
NM_000547.6:c.1184_1187dup	NP_000538.3:p.Ala397ProfsTer?
NM_001206745.2:c.1184_1187dup	NP_001193674.1:p.Ala397ProfsTer?
NM_175719.4:c.1184_1187dup	NP_783650.1:p.Ala397ProfsTer?