Canonical Allele Identifier: CA1512114

Gene: TPO

Linked Data

• ClinVar Variation Id: 623380
• ClinVar RCV Id: RCV000761530 ; RCV003558563
• dbSNP Id: rs760307139
• ExAC: 2:1507747 AC / A
• gnomAD v2: 2-1507747-AC-A
• gnomAD v3: 2-1503975-AC-A
• gnomAD v4: 2-1503975-AC-A
• COSMIC: COSM85581 ; COSM1399837 ; COSM4611783
• MyVariant Identifiers: chr2:g.1507754del (hg19) ; chr2:g.1507748del (hg19) ; chr2:g.1503976del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1503982del , CM000664.2:g.1503982del	GRCh38
NC_000002.11:g.1507754del , CM000664.1:g.1507754del	GRCh37
NC_000002.10:g.1486761del	NCBI36
NG_011581.1:g.95520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329066.9:c.2421del MANE Select	ENSP00000329869.4:p.Cys808AlafsTer24
ENST00000329066.8:c.2421del	ENSP00000329869.4:p.Cys808AlafsTer24
ENST00000345913.8:c.2421del	ENSP00000318820.7:p.Cys808AlafsTer24
ENST00000346956.7:c.2386+7217del	ENSP00000263886.6:n.2386+7217del
ENST00000382198.5:c.1902del	ENSP00000371633.1:p.Cys635AlafsTer24
ENST00000382201.7:c.2250del	ENSP00000371636.3:p.Cys751AlafsTer24
ENST00000422464.5:c.2173+7217del	ENSP00000405788.1:n.2173+7217del
ENST00000425083.3:n.84del
ENST00000446278.5:c.845del
ENST00000462973.5:n.424+9943del
ENST00000469607.3:c.808+7217del	ENSP00000419461.1:n.808+7217del
ENST00000497517.6:n.712del
NM_000547.5:c.2421del	NP_000538.3:p.Cys808AlafsTer24
NM_001206744.1:c.2421del	NP_001193673.1:p.Cys808AlafsTer24
NM_001206745.1:c.2250del	NP_001193674.1:p.Cys751AlafsTer24
NM_175719.3:c.2250del	NP_783650.1:p.Cys751AlafsTer24
NM_175721.3:c.2386+7217del	NP_783652.1:n.2386+7217del
NM_175722.3:c.1902del	NP_783653.1:p.Cys635AlafsTer24
XM_011510379.1:c.2386+7217del	XP_011508681.1:n.2386+7217del
XM_011510380.1:c.2421del	XP_011508682.1:p.Cys808AlafsTer24
XM_011510381.1:c.2215+7217del	XP_011508683.1:n.2215+7217del
XR_922681.1:n.2422del
XM_011510380.3:c.2457del	XP_011508682.2:p.Cys820AlafsTer24
XM_024453085.1:c.2422+7217del	XP_024308853.1:n.2422+7217del
XM_024453086.1:c.2457del	XP_024308854.1:p.Cys820AlafsTer24
XM_024453087.1:c.2386+7217del	XP_024308855.1:n.2386+7217del
XM_024453088.1:c.2386+7217del	XP_024308856.1:n.2386+7217del
XM_024453089.1:c.2386+7217del	XP_024308857.1:n.2386+7217del
XM_024453090.1:c.2422+7217del	XP_024308858.1:n.2422+7217del
XM_024453091.1:c.2286del	XP_024308859.1:p.Cys763AlafsTer24
XM_024453092.1:c.2251+7217del	XP_024308860.1:n.2251+7217del
XM_024453093.1:c.1938del	XP_024308861.1:p.Cys647AlafsTer24
NM_001206744.2:c.2421del MANE Select	NP_001193673.1:p.Cys808AlafsTer24
NM_000547.6:c.2421del	NP_000538.3:p.Cys808AlafsTer24
NM_001206745.2:c.2250del	NP_001193674.1:p.Cys751AlafsTer24
NM_175719.4:c.2250del	NP_783650.1:p.Cys751AlafsTer24