Canonical Allele Identifier: CA915942668
Gene: TCOF1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150398372_150398376del , CM000667.2:g.150398372_150398376del GRCh38
NC_000005.9:g.149777935_149777939del , CM000667.1:g.149777935_149777939del GRCh37
NC_000005.8:g.149758128_149758132del NCBI36
NG_011341.1:g.45734_45738del

Transcript Alleles

HGVS Amino-acid Change
ENST00000427724.7:c.4247_4251del ENSP00000390717.3:p.Lys1416ArgfsTer15
ENST00000643257.2:c.4364_4368del MANE Select ENSP00000493815.1:p.Lys1455ArgfsTer15
ENST00000650162.1:c.4019_4023del ENSP00000497075.1:p.Lys1340ArgfsTer15
ENST00000323668.11:c.4130_4134del ENSP00000325223.6:p.Lys1377ArgfsTer15
ENST00000377797.7:c.4361_4365del ENSP00000367028.4:p.Lys1454ArgfsTer15
ENST00000439160.6:c.4250_4254del ENSP00000406888.2:p.Lys1417ArgfsTer15
ENST00000445265.6:c.4133_4137del ENSP00000409944.2:p.Lys1378ArgfsTer15
ENST00000504761.6:c.4361_4365del ENSP00000421655.2:p.Lys1454ArgfsTer15
ENST00000513346.5:c.4361_4365del ENSP00000427484.1:p.Lys1454ArgfsTer15
ENST00000515516.1:c.461_465del ENSP00000426471.1:p.Lys154ArgfsTer15
NM_000356.3:c.4130_4134del NP_000347.2:p.Lys1377ArgfsTer15
NM_001135243.1:c.4361_4365del NP_001128715.1:p.Lys1454ArgfsTer15
NM_001135244.1:c.4250_4254del NP_001128716.1:p.Lys1417ArgfsTer15
NM_001135245.1:c.4133_4137del NP_001128717.1:p.Lys1378ArgfsTer15
NM_001195141.1:c.4247_4251del NP_001182070.1:p.Lys1416ArgfsTer15
XM_005268502.2:c.4475_4479del XP_005268559.1:p.Lys1492ArgfsTer15
XM_005268503.2:c.4472_4476del XP_005268560.1:p.Lys1491ArgfsTer15
XM_005268504.2:c.4472_4476del XP_005268561.1:p.Lys1491ArgfsTer15
XM_005268505.2:c.4364_4368del XP_005268562.1:p.Lys1455ArgfsTer15
XM_005268506.2:c.4361_4365del XP_005268563.1:p.Lys1454ArgfsTer15
XM_005268507.2:c.4244_4248del XP_005268564.1:p.Lys1415ArgfsTer15
XM_011537678.1:c.4295_4299del XP_011535980.1:p.Lys1432ArgfsTer15
XM_005268502.4:c.4475_4479del XP_005268559.1:p.Lys1492ArgfsTer15
XM_005268503.4:c.4472_4476del XP_005268560.1:p.Lys1491ArgfsTer15
XM_005268504.4:c.4472_4476del XP_005268561.1:p.Lys1491ArgfsTer15
XM_005268505.4:c.4364_4368del XP_005268562.1:p.Lys1455ArgfsTer15
XM_005268506.4:c.4361_4365del XP_005268563.1:p.Lys1454ArgfsTer15
XM_005268507.4:c.4244_4248del XP_005268564.1:p.Lys1415ArgfsTer15
XM_011537678.3:c.4295_4299del XP_011535980.1:p.Lys1432ArgfsTer15
XM_017009792.2:c.4358_4362del XP_016865281.1:p.Lys1453ArgfsTer15
XM_017009793.2:c.4184_4188del XP_016865282.1:p.Lys1395ArgfsTer15
XM_017009794.2:c.4070_4074del XP_016865283.1:p.Lys1357ArgfsTer15
NM_000356.4:c.4130_4134del NP_000347.2:p.Lys1377ArgfsTer15
NM_001135244.2:c.4250_4254del NP_001128716.1:p.Lys1417ArgfsTer15
NM_001135245.2:c.4133_4137del NP_001128717.1:p.Lys1378ArgfsTer15
NM_001195141.2:c.4247_4251del NP_001182070.1:p.Lys1416ArgfsTer15
NM_001371623.1:c.4364_4368del MANE Select NP_001358552.1:p.Lys1455ArgfsTer15
NM_001135243.2:c.4361_4365del NP_001128715.1:p.Lys1454ArgfsTer15