Canonical Allele Identifier: CA530451130

Gene: TPO

Linked Data

• ClinVar Variation Id: 988651
• ClinVar RCV Id: RCV001270340
• dbSNP Id: rs1385139268
• gnomAD v2: 2-1491756-G-GCTGCCAGGT
• gnomAD v4: 2-1487984-G-GCTGCCAGGT
• MyVariant Identifiers: chr2:g.1491756_1491757insCTGCCAGGT (hg19) ; chr2:g.1487984_1487985insCTGCCAGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1487992_1488000dup , CM000664.2:g.1487992_1488000dup	GRCh38
NC_000002.11:g.1491764_1491772dup , CM000664.1:g.1491764_1491772dup	GRCh37
NC_000002.10:g.1470771_1470779dup	NCBI36
NG_011581.1:g.79530_79538dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329066.9:c.1768+1_1768+9dup
ENST00000329066.8:c.1768+1_1768+9dup
ENST00000345913.8:c.1768+1_1768+9dup
ENST00000346956.7:c.1768+1_1768+9dup
ENST00000382198.5:c.1249+1_1249+9dup
ENST00000382201.7:c.1597+3138_1597+3146dup	ENSP00000371636.3:n.1597+3138_1597+3146dup
ENST00000422464.5:c.1555+1_1555+9dup
ENST00000446278.5:c.192+3138_192+3146dup
ENST00000462973.5:n.186+3138_186+3146dup
ENST00000469607.3:c.190+3138_190+3146dup	ENSP00000419461.1:n.190+3138_190+3146dup
ENST00000497517.6:n.439+3138_439+3146dup
NM_000547.5:c.1768+1_1768+9dup
NM_001206744.1:c.1768+1_1768+9dup
NM_001206745.1:c.1597+3138_1597+3146dup	NP_001193674.1:n.1597+3138_1597+3146dup
NM_175719.3:c.1597+3138_1597+3146dup	NP_783650.1:n.1597+3138_1597+3146dup
NM_175721.3:c.1768+1_1768+9dup
NM_175722.3:c.1249+1_1249+9dup
XM_011510379.1:c.1768+1_1768+9dup
XM_011510380.1:c.1768+1_1768+9dup
XM_011510381.1:c.1597+3138_1597+3146dup	XP_011508683.1:n.1597+3138_1597+3146dup
XR_922681.1:n.1769+1_1769+9dup
XM_011510380.3:c.1804+1_1804+9dup
XM_024453085.1:c.1804+1_1804+9dup
XM_024453086.1:c.1804+1_1804+9dup
XM_024453087.1:c.1768+1_1768+9dup
XM_024453088.1:c.1768+1_1768+9dup
XM_024453089.1:c.1768+1_1768+9dup
XM_024453090.1:c.1804+1_1804+9dup
XM_024453091.1:c.1633+3138_1633+3146dup	XP_024308859.1:n.1633+3138_1633+3146dup
XM_024453092.1:c.1633+3138_1633+3146dup	XP_024308860.1:n.1633+3138_1633+3146dup
XM_024453093.1:c.1285+1_1285+9dup
NM_001206744.2:c.1768+1_1768+9dup
NM_000547.6:c.1768+1_1768+9dup
NM_001206745.2:c.1597+3138_1597+3146dup	NP_001193674.1:n.1597+3138_1597+3146dup
NM_175719.4:c.1597+3138_1597+3146dup	NP_783650.1:n.1597+3138_1597+3146dup