Canonical Allele Identifier: CA645372422

Gene: TCOF1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150398376dup , CM000667.2:g.150398376dup	GRCh38
NC_000005.9:g.149777939dup , CM000667.1:g.149777939dup	GRCh37
NC_000005.8:g.149758132dup	NCBI36
NG_011341.1:g.45738dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.4251dup	ENSP00000390717.3:p.Glu1418ArgfsTer15
ENST00000643257.2:c.4368dup MANE Select	ENSP00000493815.1:p.Glu1457ArgfsTer15
ENST00000650162.1:c.4023dup	ENSP00000497075.1:p.Glu1342ArgfsTer15
ENST00000323668.11:c.4134dup	ENSP00000325223.6:p.Glu1379ArgfsTer15
ENST00000377797.7:c.4365dup	ENSP00000367028.4:p.Glu1456ArgfsTer15
ENST00000439160.6:c.4254dup	ENSP00000406888.2:p.Glu1419ArgfsTer15
ENST00000445265.6:c.4137dup	ENSP00000409944.2:p.Glu1380ArgfsTer15
ENST00000504761.6:c.4365dup	ENSP00000421655.2:p.Glu1456ArgfsTer15
ENST00000513346.5:c.4365dup	ENSP00000427484.1:p.Glu1456ArgfsTer15
ENST00000515516.1:c.465dup	ENSP00000426471.1:p.Glu156ArgfsTer15
NM_000356.3:c.4134dup	NP_000347.2:p.Glu1379ArgfsTer15
NM_001135243.1:c.4365dup	NP_001128715.1:p.Glu1456ArgfsTer15
NM_001135244.1:c.4254dup	NP_001128716.1:p.Glu1419ArgfsTer15
NM_001135245.1:c.4137dup	NP_001128717.1:p.Glu1380ArgfsTer15
NM_001195141.1:c.4251dup	NP_001182070.1:p.Glu1418ArgfsTer15
XM_005268502.2:c.4479dup	XP_005268559.1:p.Glu1494ArgfsTer15
XM_005268503.2:c.4476dup	XP_005268560.1:p.Glu1493ArgfsTer15
XM_005268504.2:c.4476dup	XP_005268561.1:p.Glu1493ArgfsTer15
XM_005268505.2:c.4368dup	XP_005268562.1:p.Glu1457ArgfsTer15
XM_005268506.2:c.4365dup	XP_005268563.1:p.Glu1456ArgfsTer15
XM_005268507.2:c.4248dup	XP_005268564.1:p.Glu1417ArgfsTer15
XM_011537678.1:c.4299dup	XP_011535980.1:p.Glu1434ArgfsTer15
XM_005268502.4:c.4479dup	XP_005268559.1:p.Glu1494ArgfsTer15
XM_005268503.4:c.4476dup	XP_005268560.1:p.Glu1493ArgfsTer15
XM_005268504.4:c.4476dup	XP_005268561.1:p.Glu1493ArgfsTer15
XM_005268505.4:c.4368dup	XP_005268562.1:p.Glu1457ArgfsTer15
XM_005268506.4:c.4365dup	XP_005268563.1:p.Glu1456ArgfsTer15
XM_005268507.4:c.4248dup	XP_005268564.1:p.Glu1417ArgfsTer15
XM_011537678.3:c.4299dup	XP_011535980.1:p.Glu1434ArgfsTer15
XM_017009792.2:c.4362dup	XP_016865281.1:p.Glu1455ArgfsTer15
XM_017009793.2:c.4188dup	XP_016865282.1:p.Glu1397ArgfsTer15
XM_017009794.2:c.4074dup	XP_016865283.1:p.Glu1359ArgfsTer15
NM_000356.4:c.4134dup	NP_000347.2:p.Glu1379ArgfsTer15
NM_001135244.2:c.4254dup	NP_001128716.1:p.Glu1419ArgfsTer15
NM_001135245.2:c.4137dup	NP_001128717.1:p.Glu1380ArgfsTer15
NM_001195141.2:c.4251dup	NP_001182070.1:p.Glu1418ArgfsTer15
NM_001371623.1:c.4368dup MANE Select	NP_001358552.1:p.Glu1457ArgfsTer15
NM_001135243.2:c.4365dup	NP_001128715.1:p.Glu1456ArgfsTer15