Canonical Allele Identifier: CA2695205533

Gene: TCOF1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393378_150393382del , CM000667.2:g.150393378_150393382del	GRCh38
NC_000005.9:g.149772941_149772945del , CM000667.1:g.149772941_149772945del	GRCh37
NC_000005.8:g.149753134_149753138del	NCBI36
NG_011341.1:g.40740_40744del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3493_3497del	ENSP00000390717.3:p.Leu1165ArgfsTer?
ENST00000643257.2:c.3610_3614del MANE Select	ENSP00000493815.1:p.Leu1204ArgfsTer?
ENST00000650162.1:c.3265_3269del	ENSP00000497075.1:p.Leu1089ArgfsTer?
ENST00000674413.1:c.3009_3013del
ENST00000323668.11:c.3376_3380del	ENSP00000325223.6:p.Leu1126ArgfsTer?
ENST00000377797.7:c.3607_3611del	ENSP00000367028.4:p.Leu1203ArgfsTer?
ENST00000427724.6:c.3493_3497del	ENSP00000390717.2:p.Leu1165ArgfsTer?
ENST00000439160.6:c.3496_3500del	ENSP00000406888.2:p.Leu1166ArgfsTer?
ENST00000445265.6:c.3379_3383del	ENSP00000409944.2:p.Leu1127ArgfsTer?
ENST00000504761.6:c.3607_3611del	ENSP00000421655.2:p.Leu1203ArgfsTer?
ENST00000513346.5:c.3607_3611del	ENSP00000427484.1:p.Leu1203ArgfsTer?
ENST00000514442.5:n.3657_3661del
ENST00000515516.1:c.343-3365_343-3361del	ENSP00000426471.1:n.343-3365_343-3361del
NM_000356.3:c.3376_3380del	NP_000347.2:p.Leu1126ArgfsTer?
NM_001135243.1:c.3607_3611del	NP_001128715.1:p.Leu1203ArgfsTer?
NM_001135244.1:c.3496_3500del	NP_001128716.1:p.Leu1166ArgfsTer?
NM_001135245.1:c.3379_3383del	NP_001128717.1:p.Leu1127ArgfsTer?
NM_001195141.1:c.3493_3497del	NP_001182070.1:p.Leu1165ArgfsTer?
XM_005268502.2:c.3721_3725del	XP_005268559.1:p.Leu1241ArgfsTer?
XM_005268503.2:c.3718_3722del	XP_005268560.1:p.Leu1240ArgfsTer?
XM_005268504.2:c.3718_3722del	XP_005268561.1:p.Leu1240ArgfsTer?
XM_005268505.2:c.3610_3614del	XP_005268562.1:p.Leu1204ArgfsTer?
XM_005268506.2:c.3607_3611del	XP_005268563.1:p.Leu1203ArgfsTer?
XM_005268507.2:c.3490_3494del	XP_005268564.1:p.Leu1164ArgfsTer?
XM_011537678.1:c.3541_3545del	XP_011535980.1:p.Leu1181ArgfsTer?
XR_427778.1:n.3725_3729del
XR_427780.1:n.3614_3618del
XM_005268502.4:c.3721_3725del	XP_005268559.1:p.Leu1241ArgfsTer?
XM_005268503.4:c.3718_3722del	XP_005268560.1:p.Leu1240ArgfsTer?
XM_005268504.4:c.3718_3722del	XP_005268561.1:p.Leu1240ArgfsTer?
XM_005268505.4:c.3610_3614del	XP_005268562.1:p.Leu1204ArgfsTer?
XM_005268506.4:c.3607_3611del	XP_005268563.1:p.Leu1203ArgfsTer?
XM_005268507.4:c.3490_3494del	XP_005268564.1:p.Leu1164ArgfsTer?
XM_011537678.3:c.3541_3545del	XP_011535980.1:p.Leu1181ArgfsTer?
XM_017009792.2:c.3604_3608del	XP_016865281.1:p.Leu1202ArgfsTer?
XM_017009793.2:c.3430_3434del	XP_016865282.1:p.Leu1144ArgfsTer?
XM_017009794.2:c.3316_3320del	XP_016865283.1:p.Leu1106ArgfsTer?
XR_427778.3:n.3727_3731del
XR_427780.3:n.3616_3620del
NM_000356.4:c.3376_3380del	NP_000347.2:p.Leu1126ArgfsTer?
NM_001135244.2:c.3496_3500del	NP_001128716.1:p.Leu1166ArgfsTer?
NM_001135245.2:c.3379_3383del	NP_001128717.1:p.Leu1127ArgfsTer?
NM_001195141.2:c.3493_3497del	NP_001182070.1:p.Leu1165ArgfsTer?
NM_001371623.1:c.3610_3614del MANE Select	NP_001358552.1:p.Leu1204ArgfsTer?
NM_001135243.2:c.3607_3611del	NP_001128715.1:p.Leu1203ArgfsTer?