Canonical Allele Identifier: CA1511931

Gene: TPO

Linked Data

• ClinVar Variation Id: 331361
• ClinVar RCV Id: RCV003718200 ; RCV000407522
• dbSNP Id: rs28991288
• ExAC: 2:1499749 CCTT / C
• gnomAD v2: 2-1499749-CCTT-C
• gnomAD v3: 2-1495977-CCTT-C
• gnomAD v4: 2-1495977-CCTT-C
• MyVariant Identifiers: chr2:g.1499752_1499754del (hg19) ; chr2:g.1499750_1499752del (hg19) ; chr2:g.1495980_1495982del (hg38) ; chr2:g.1495979_1495981del (hg38) ; chr2:g.1495978_1495980del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1495980_1495982del , CM000664.2:g.1495980_1495982del	GRCh38
NC_000002.11:g.1499752_1499754del , CM000664.1:g.1499752_1499754del	GRCh37
NC_000002.10:g.1478759_1478761del	NCBI36
NG_011581.1:g.87518_87520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329066.9:c.2007-9_2007-7del MANE Select	ENSP00000329869.4:n.2007-9_2007-7del
ENST00000329066.8:c.2007-9_2007-7del	ENSP00000329869.4:n.2007-9_2007-7del
ENST00000345913.8:c.2007-9_2007-7del	ENSP00000318820.7:n.2007-9_2007-7del
ENST00000346956.7:c.2007-9_2007-7del	ENSP00000263886.6:n.2007-9_2007-7del
ENST00000382198.5:c.1488-9_1488-7del	ENSP00000371633.1:n.1488-9_1488-7del
ENST00000382201.7:c.1836-9_1836-7del	ENSP00000371636.3:n.1836-9_1836-7del
ENST00000422464.5:c.1794-9_1794-7del	ENSP00000405788.1:n.1794-9_1794-7del
ENST00000446278.5:c.431-9_431-7del
ENST00000462973.5:n.424+1941_424+1943del
ENST00000469607.3:c.429-9_429-7del	ENSP00000419461.1:n.429-9_429-7del
ENST00000497517.6:n.677+1941_677+1943del
NM_000547.5:c.2007-9_2007-7del	NP_000538.3:n.2007-9_2007-7del
NM_001206744.1:c.2007-9_2007-7del	NP_001193673.1:n.2007-9_2007-7del
NM_001206745.1:c.1836-9_1836-7del	NP_001193674.1:n.1836-9_1836-7del
NM_175719.3:c.1836-9_1836-7del	NP_783650.1:n.1836-9_1836-7del
NM_175721.3:c.2007-9_2007-7del	NP_783652.1:n.2007-9_2007-7del
NM_175722.3:c.1488-9_1488-7del	NP_783653.1:n.1488-9_1488-7del
XM_011510379.1:c.2007-9_2007-7del	XP_011508681.1:n.2007-9_2007-7del
XM_011510380.1:c.2007-9_2007-7del	XP_011508682.1:n.2007-9_2007-7del
XM_011510381.1:c.1836-9_1836-7del	XP_011508683.1:n.1836-9_1836-7del
XR_922681.1:n.2008-9_2008-7del
XM_011510380.3:c.2043-9_2043-7del	XP_011508682.2:n.2043-9_2043-7del
XM_024453085.1:c.2043-9_2043-7del	XP_024308853.1:n.2043-9_2043-7del
XM_024453086.1:c.2043-9_2043-7del	XP_024308854.1:n.2043-9_2043-7del
XM_024453087.1:c.2007-9_2007-7del	XP_024308855.1:n.2007-9_2007-7del
XM_024453088.1:c.2007-9_2007-7del	XP_024308856.1:n.2007-9_2007-7del
XM_024453089.1:c.2007-9_2007-7del	XP_024308857.1:n.2007-9_2007-7del
XM_024453090.1:c.2043-9_2043-7del	XP_024308858.1:n.2043-9_2043-7del
XM_024453091.1:c.1872-9_1872-7del	XP_024308859.1:n.1872-9_1872-7del
XM_024453092.1:c.1872-9_1872-7del	XP_024308860.1:n.1872-9_1872-7del
XM_024453093.1:c.1524-9_1524-7del	XP_024308861.1:n.1524-9_1524-7del
NM_001206744.2:c.2007-9_2007-7del MANE Select	NP_001193673.1:n.2007-9_2007-7del
NM_000547.6:c.2007-9_2007-7del	NP_000538.3:n.2007-9_2007-7del
NM_001206745.2:c.1836-9_1836-7del	NP_001193674.1:n.1836-9_1836-7del
NM_175719.4:c.1836-9_1836-7del	NP_783650.1:n.1836-9_1836-7del