Canonical Allele Identifier: CA16618144

Gene: TCOF1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150398375_150398376del , CM000667.2:g.150398375_150398376del	GRCh38
NC_000005.9:g.149777938_149777939del , CM000667.1:g.149777938_149777939del	GRCh37
NC_000005.8:g.149758131_149758132del	NCBI36
NG_011341.1:g.45737_45738del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.4250_4251del	ENSP00000390717.3:p.Lys1417ArgfsTer15
ENST00000643257.2:c.4367_4368del MANE Select	ENSP00000493815.1:p.Lys1456ArgfsTer15
ENST00000650162.1:c.4022_4023del	ENSP00000497075.1:p.Lys1341ArgfsTer15
ENST00000323668.11:c.4133_4134del	ENSP00000325223.6:p.Lys1378ArgfsTer15
ENST00000377797.7:c.4364_4365del	ENSP00000367028.4:p.Lys1455ArgfsTer15
ENST00000439160.6:c.4253_4254del	ENSP00000406888.2:p.Lys1418ArgfsTer15
ENST00000445265.6:c.4136_4137del	ENSP00000409944.2:p.Lys1379ArgfsTer15
ENST00000504761.6:c.4364_4365del	ENSP00000421655.2:p.Lys1455ArgfsTer15
ENST00000513346.5:c.4364_4365del	ENSP00000427484.1:p.Lys1455ArgfsTer15
ENST00000515516.1:c.464_465del	ENSP00000426471.1:p.Lys155ArgfsTer15
NM_000356.3:c.4133_4134del	NP_000347.2:p.Lys1378ArgfsTer15
NM_001135243.1:c.4364_4365del	NP_001128715.1:p.Lys1455ArgfsTer15
NM_001135244.1:c.4253_4254del	NP_001128716.1:p.Lys1418ArgfsTer15
NM_001135245.1:c.4136_4137del	NP_001128717.1:p.Lys1379ArgfsTer15
NM_001195141.1:c.4250_4251del	NP_001182070.1:p.Lys1417ArgfsTer15
XM_005268502.2:c.4478_4479del	XP_005268559.1:p.Lys1493ArgfsTer15
XM_005268503.2:c.4475_4476del	XP_005268560.1:p.Lys1492ArgfsTer15
XM_005268504.2:c.4475_4476del	XP_005268561.1:p.Lys1492ArgfsTer15
XM_005268505.2:c.4367_4368del	XP_005268562.1:p.Lys1456ArgfsTer15
XM_005268506.2:c.4364_4365del	XP_005268563.1:p.Lys1455ArgfsTer15
XM_005268507.2:c.4247_4248del	XP_005268564.1:p.Lys1416ArgfsTer15
XM_011537678.1:c.4298_4299del	XP_011535980.1:p.Lys1433ArgfsTer15
XM_005268502.4:c.4478_4479del	XP_005268559.1:p.Lys1493ArgfsTer15
XM_005268503.4:c.4475_4476del	XP_005268560.1:p.Lys1492ArgfsTer15
XM_005268504.4:c.4475_4476del	XP_005268561.1:p.Lys1492ArgfsTer15
XM_005268505.4:c.4367_4368del	XP_005268562.1:p.Lys1456ArgfsTer15
XM_005268506.4:c.4364_4365del	XP_005268563.1:p.Lys1455ArgfsTer15
XM_005268507.4:c.4247_4248del	XP_005268564.1:p.Lys1416ArgfsTer15
XM_011537678.3:c.4298_4299del	XP_011535980.1:p.Lys1433ArgfsTer15
XM_017009792.2:c.4361_4362del	XP_016865281.1:p.Lys1454ArgfsTer15
XM_017009793.2:c.4187_4188del	XP_016865282.1:p.Lys1396ArgfsTer15
XM_017009794.2:c.4073_4074del	XP_016865283.1:p.Lys1358ArgfsTer15
NM_000356.4:c.4133_4134del	NP_000347.2:p.Lys1378ArgfsTer15
NM_001135244.2:c.4253_4254del	NP_001128716.1:p.Lys1418ArgfsTer15
NM_001135245.2:c.4136_4137del	NP_001128717.1:p.Lys1379ArgfsTer15
NM_001195141.2:c.4250_4251del	NP_001182070.1:p.Lys1417ArgfsTer15
NM_001371623.1:c.4367_4368del MANE Select	NP_001358552.1:p.Lys1456ArgfsTer15
NM_001135243.2:c.4364_4365del	NP_001128715.1:p.Lys1455ArgfsTer15