Canonical Allele Identifier: CA16042509
Gene: TCOF1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372528
ClinVar RCV Id: RCV000414108
dbSNP Id: rs1057517834

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150393525_150393528del , CM000667.2:g.150393525_150393528del GRCh38
NC_000005.9:g.149773088_149773091del , CM000667.1:g.149773088_149773091del GRCh37
NC_000005.8:g.149753281_149753284del NCBI36
NG_011341.1:g.40887_40890del

Transcript Alleles

HGVS Amino-acid change
NM_000356.3:c.3523_3526del VV NP_000347.2:p.Ala1175GlnfsTer?
NM_001135243.1:c.3754_3757del VV NP_001128715.1:p.Ala1252GlnfsTer?
NM_001135244.1:c.3643_3646del VV NP_001128716.1:p.Ala1215GlnfsTer?
NM_001135245.1:c.3526_3529del VV NP_001128717.1:p.Ala1176GlnfsTer?
NM_001195141.1:c.3640_3643del VV NP_001182070.1:p.Ala1214GlnfsTer?
XM_005268502.2:c.3868_3871del XP_005268559.1:p.Ala1290GlnfsTer?
XM_005268503.2:c.3865_3868del XP_005268560.1:p.Ala1289GlnfsTer?
XM_005268504.2:c.3865_3868del XP_005268561.1:p.Ala1289GlnfsTer?
XM_005268505.2:c.3757_3760del XP_005268562.1:p.Ala1253GlnfsTer?
XM_005268506.2:c.3754_3757del XP_005268563.1:p.Ala1252GlnfsTer?
XM_005268507.2:c.3637_3640del XP_005268564.1:p.Ala1213GlnfsTer?
XM_011537678.1:c.3688_3691del XP_011535980.1:p.Ala1230GlnfsTer?
XM_005268502.4:c.3868_3871del
XM_005268503.4:c.3865_3868del
XM_005268504.4:c.3865_3868del
XM_005268505.4:c.3757_3760del
XM_005268506.4:c.3754_3757del
XM_005268507.4:c.3637_3640del
XM_011537678.3:c.3688_3691del
XM_017009792.2:c.3751_3754del XP_016865281.1:p.Ala1251GlnfsTer?
XM_017009793.2:c.3577_3580del XP_016865282.1:p.Ala1193GlnfsTer?
XM_017009794.2:c.3463_3466del XP_016865283.1:p.Ala1155GlnfsTer?
XR_427778.3:n.3874_3877del
XR_427780.3:n.3763_3766del
ENST00000323668.11:c.3523_3526del ENSP00000325223.6:p.Ala1175GlnfsTer?
ENST00000377797.7:c.3754_3757del ENSP00000367028.4:p.Ala1252GlnfsTer?
ENST00000427724.6:c.3640_3643del ENSP00000390717.2:p.Ala1214GlnfsTer?
ENST00000439160.6:c.3643_3646del ENSP00000406888.2:p.Ala1215GlnfsTer?
ENST00000445265.6:c.3526_3529del ENSP00000409944.2:p.Ala1176GlnfsTer?
ENST00000504761.6:n.3754_3757del ENSP00000421655.2:p.Ala1252GlnfsTer?
ENST00000513346.5:n.3754_3757del ENSP00000427484.1:p.Ala1252GlnfsTer?
ENST00000514442.5:n.3804_3807del
ENST00000515516.1:n.343-3218_343-3215del ENSP00000426471.1:p.=