Canonical Allele Identifier: CA1082884385

Gene: TCOF1

Linked Data

• dbSNP Id: rs1763391189
• gnomAD v3: 5-150374929-C-CT
• gnomAD v4: 5-150374929-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150374929_150374930insT , CM000667.2:g.150374929_150374930insT	GRCh38
NC_000005.9:g.149754492_149754493insT , CM000667.1:g.149754492_149754493insT	GRCh37
NC_000005.8:g.149734685_149734686insT	NCBI36
NG_011341.1:g.22291_22292insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.1279-25_1279-24insT	ENSP00000390717.3:n.1279-25_1279-24insT
ENST00000513538.2:c.1279-25_1279-24insT	ENSP00000422567.2:n.1279-25_1279-24insT
ENST00000643257.2:c.1279-25_1279-24insT MANE Select	ENSP00000493815.1:n.1279-25_1279-24insT
ENST00000646961.1:c.835-25_835-24insT	ENSP00000496754.1:n.835-25_835-24insT
ENST00000650162.1:c.1048-25_1048-24insT	ENSP00000497075.1:n.1048-25_1048-24insT
ENST00000674413.1:c.567-25_567-24insT
ENST00000323668.11:c.1048-25_1048-24insT	ENSP00000325223.6:n.1048-25_1048-24insT
ENST00000377797.7:c.1279-25_1279-24insT	ENSP00000367028.4:n.1279-25_1279-24insT
ENST00000394269.7:c.1279-25_1279-24insT	ENSP00000377811.3:n.1279-25_1279-24insT
ENST00000427724.6:c.1279-25_1279-24insT	ENSP00000390717.2:n.1279-25_1279-24insT
ENST00000439160.6:c.1279-25_1279-24insT	ENSP00000406888.2:n.1279-25_1279-24insT
ENST00000445265.6:c.1048-25_1048-24insT	ENSP00000409944.2:n.1048-25_1048-24insT
ENST00000504761.6:c.1279-25_1279-24insT	ENSP00000421655.2:n.1279-25_1279-24insT
ENST00000513346.5:c.1279-25_1279-24insT	ENSP00000427484.1:n.1279-25_1279-24insT
ENST00000514442.5:n.79-25_79-24insT
ENST00000515035.5:n.2161_2162insT
ENST00000515516.1:c.342+7012_342+7013insT	ENSP00000426471.1:n.342+7012_342+7013insT
NM_000356.3:c.1048-25_1048-24insT	NP_000347.2:n.1048-25_1048-24insT
NM_001008657.2:c.1279-25_1279-24insT	NP_001008657.1:n.1279-25_1279-24insT
NM_001135243.1:c.1279-25_1279-24insT	NP_001128715.1:n.1279-25_1279-24insT
NM_001135244.1:c.1279-25_1279-24insT	NP_001128716.1:n.1279-25_1279-24insT
NM_001135245.1:c.1048-25_1048-24insT	NP_001128717.1:n.1048-25_1048-24insT
NM_001195141.1:c.1279-25_1279-24insT	NP_001182070.1:n.1279-25_1279-24insT
XM_005268502.2:c.1279-25_1279-24insT	XP_005268559.1:n.1279-25_1279-24insT
XM_005268503.2:c.1279-25_1279-24insT	XP_005268560.1:n.1279-25_1279-24insT
XM_005268504.2:c.1279-25_1279-24insT	XP_005268561.1:n.1279-25_1279-24insT
XM_005268505.2:c.1279-25_1279-24insT	XP_005268562.1:n.1279-25_1279-24insT
XM_005268506.2:c.1279-25_1279-24insT	XP_005268563.1:n.1279-25_1279-24insT
XM_005268507.2:c.1048-25_1048-24insT	XP_005268564.1:n.1048-25_1048-24insT
XM_005268508.2:c.1279-25_1279-24insT	XP_005268565.1:n.1279-25_1279-24insT
XM_005268509.2:c.1279-25_1279-24insT	XP_005268566.1:n.1279-25_1279-24insT
XM_011537678.1:c.1279-25_1279-24insT	XP_011535980.1:n.1279-25_1279-24insT
XR_427778.1:n.1324-25_1324-24insT
XR_427779.1:n.1324-25_1324-24insT
XR_427780.1:n.1324-25_1324-24insT
XM_005268502.4:c.1279-25_1279-24insT	XP_005268559.1:n.1279-25_1279-24insT
XM_005268503.4:c.1279-25_1279-24insT	XP_005268560.1:n.1279-25_1279-24insT
XM_005268504.4:c.1279-25_1279-24insT	XP_005268561.1:n.1279-25_1279-24insT
XM_005268505.4:c.1279-25_1279-24insT	XP_005268562.1:n.1279-25_1279-24insT
XM_005268506.4:c.1279-25_1279-24insT	XP_005268563.1:n.1279-25_1279-24insT
XM_005268507.4:c.1048-25_1048-24insT	XP_005268564.1:n.1048-25_1048-24insT
XM_005268508.4:c.1279-25_1279-24insT	XP_005268565.1:n.1279-25_1279-24insT
XM_005268509.4:c.1279-25_1279-24insT	XP_005268566.1:n.1279-25_1279-24insT
XM_011537678.3:c.1279-25_1279-24insT	XP_011535980.1:n.1279-25_1279-24insT
XM_017009792.2:c.1279-25_1279-24insT	XP_016865281.1:n.1279-25_1279-24insT
XM_017009793.2:c.1279-25_1279-24insT	XP_016865282.1:n.1279-25_1279-24insT
XM_017009794.2:c.1279-25_1279-24insT	XP_016865283.1:n.1279-25_1279-24insT
XM_017009795.2:c.1048-25_1048-24insT	XP_016865284.1:n.1048-25_1048-24insT
XR_427778.3:n.1326-25_1326-24insT
XR_427779.2:n.1326-25_1326-24insT
XR_427780.3:n.1326-25_1326-24insT
NM_000356.4:c.1048-25_1048-24insT	NP_000347.2:n.1048-25_1048-24insT
NM_001008657.3:c.1279-25_1279-24insT	NP_001008657.1:n.1279-25_1279-24insT
NM_001135244.2:c.1279-25_1279-24insT	NP_001128716.1:n.1279-25_1279-24insT
NM_001135245.2:c.1048-25_1048-24insT	NP_001128717.1:n.1048-25_1048-24insT
NM_001195141.2:c.1279-25_1279-24insT	NP_001182070.1:n.1279-25_1279-24insT
NM_001371623.1:c.1279-25_1279-24insT MANE Select	NP_001358552.1:n.1279-25_1279-24insT
NM_001135243.2:c.1279-25_1279-24insT	NP_001128715.1:n.1279-25_1279-24insT