Canonical Allele Identifier: CA2657645892

Gene: TPO

Linked Data

• gnomAD v4: 2-1477321-TCCACGCGCGCCTCCGGGACTCCGGCCGCGCCTACCTGCCCTTCGTGCCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1477334_1477382del , CM000664.2:g.1477334_1477382del	GRCh38
NC_000002.11:g.1481106_1481154del , CM000664.1:g.1481106_1481154del	GRCh37
NC_000002.10:g.1460113_1460161del	NCBI36
NG_011581.1:g.68872_68920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329066.9:c.1068_1116del MANE Select	ENSP00000329869.4:p.Asp358ProfsTer?
ENST00000329066.8:c.1068_1116del	ENSP00000329869.4:p.Asp358ProfsTer?
ENST00000345913.8:c.1068_1116del	ENSP00000318820.7:p.Asp358ProfsTer?
ENST00000346956.7:c.1068_1116del	ENSP00000263886.6:p.Asp358ProfsTer?
ENST00000382198.5:c.820-7262_820-7214del	ENSP00000371633.1:n.820-7262_820-7214del
ENST00000382201.7:c.1068_1116del	ENSP00000371636.3:p.Asp358ProfsTer?
ENST00000422464.5:c.855_903del	ENSP00000405788.1:p.Asp287ProfsTer?
ENST00000497517.6:n.181-7262_181-7214del
NM_000547.5:c.1068_1116del	NP_000538.3:p.Asp358ProfsTer?
NM_001206744.1:c.1068_1116del	NP_001193673.1:p.Asp358ProfsTer?
NM_001206745.1:c.1068_1116del	NP_001193674.1:p.Asp358ProfsTer?
NM_175719.3:c.1068_1116del	NP_783650.1:p.Asp358ProfsTer?
NM_175721.3:c.1068_1116del	NP_783652.1:p.Asp358ProfsTer?
NM_175722.3:c.820-7262_820-7214del	NP_783653.1:n.820-7262_820-7214del
XM_011510379.1:c.1068_1116del	XP_011508681.1:p.Asp358ProfsTer?
XM_011510380.1:c.1068_1116del	XP_011508682.1:p.Asp358ProfsTer?
XM_011510381.1:c.1068_1116del	XP_011508683.1:p.Asp358ProfsTer?
XM_011510382.1:c.1068_1116del	XP_011508684.1:p.Asp358ProfsTer?
XR_922681.1:n.1069_1117del
XM_011510380.3:c.1104_1152del	XP_011508682.2:p.Asp370ProfsTer?
XM_024453085.1:c.1104_1152del	XP_024308853.1:p.Asp370ProfsTer?
XM_024453086.1:c.1104_1152del	XP_024308854.1:p.Asp370ProfsTer?
XM_024453087.1:c.1068_1116del	XP_024308855.1:p.Asp358ProfsTer?
XM_024453088.1:c.1068_1116del	XP_024308856.1:p.Asp358ProfsTer?
XM_024453089.1:c.1068_1116del	XP_024308857.1:p.Asp358ProfsTer?
XM_024453090.1:c.1104_1152del	XP_024308858.1:p.Asp370ProfsTer?
XM_024453091.1:c.1104_1152del	XP_024308859.1:p.Asp370ProfsTer?
XM_024453092.1:c.1104_1152del	XP_024308860.1:p.Asp370ProfsTer?
XM_024453093.1:c.856-7262_856-7214del	XP_024308861.1:n.856-7262_856-7214del
NM_001206744.2:c.1068_1116del MANE Select	NP_001193673.1:p.Asp358ProfsTer?
NM_000547.6:c.1068_1116del	NP_000538.3:p.Asp358ProfsTer?
NM_001206745.2:c.1068_1116del	NP_001193674.1:p.Asp358ProfsTer?
NM_175719.4:c.1068_1116del	NP_783650.1:p.Asp358ProfsTer?