Canonical Allele Identifier: CA2578453450

Gene: TCOF1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393367_150393369del , CM000667.2:g.150393367_150393369del	GRCh38
NC_000005.9:g.149772930_149772932del , CM000667.1:g.149772930_149772932del	GRCh37
NC_000005.8:g.149753123_149753125del	NCBI36
NG_011341.1:g.40729_40731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3487-5_3487-3del	ENSP00000390717.3:n.3487-5_3487-3del
ENST00000643257.2:c.3604-5_3604-3del MANE Select	ENSP00000493815.1:n.3604-5_3604-3del
ENST00000650162.1:c.3259-5_3259-3del	ENSP00000497075.1:n.3259-5_3259-3del
ENST00000674413.1:c.3003-5_3003-3del
ENST00000323668.11:c.3370-5_3370-3del	ENSP00000325223.6:n.3370-5_3370-3del
ENST00000377797.7:c.3601-5_3601-3del	ENSP00000367028.4:n.3601-5_3601-3del
ENST00000427724.6:c.3487-5_3487-3del	ENSP00000390717.2:n.3487-5_3487-3del
ENST00000439160.6:c.3490-5_3490-3del	ENSP00000406888.2:n.3490-5_3490-3del
ENST00000445265.6:c.3373-5_3373-3del	ENSP00000409944.2:n.3373-5_3373-3del
ENST00000504761.6:c.3601-5_3601-3del	ENSP00000421655.2:n.3601-5_3601-3del
ENST00000513346.5:c.3601-5_3601-3del	ENSP00000427484.1:n.3601-5_3601-3del
ENST00000514442.5:n.3646_3648del
ENST00000515516.1:c.343-3376_343-3374del	ENSP00000426471.1:n.343-3376_343-3374del
NM_000356.3:c.3370-5_3370-3del	NP_000347.2:n.3370-5_3370-3del
NM_001135243.1:c.3601-5_3601-3del	NP_001128715.1:n.3601-5_3601-3del
NM_001135244.1:c.3490-5_3490-3del	NP_001128716.1:n.3490-5_3490-3del
NM_001135245.1:c.3373-5_3373-3del	NP_001128717.1:n.3373-5_3373-3del
NM_001195141.1:c.3487-5_3487-3del	NP_001182070.1:n.3487-5_3487-3del
XM_005268502.2:c.3715-5_3715-3del	XP_005268559.1:n.3715-5_3715-3del
XM_005268503.2:c.3712-5_3712-3del	XP_005268560.1:n.3712-5_3712-3del
XM_005268504.2:c.3712-5_3712-3del	XP_005268561.1:n.3712-5_3712-3del
XM_005268505.2:c.3604-5_3604-3del	XP_005268562.1:n.3604-5_3604-3del
XM_005268506.2:c.3601-5_3601-3del	XP_005268563.1:n.3601-5_3601-3del
XM_005268507.2:c.3484-5_3484-3del	XP_005268564.1:n.3484-5_3484-3del
XM_011537678.1:c.3535-5_3535-3del	XP_011535980.1:n.3535-5_3535-3del
XR_427778.1:n.3719-5_3719-3del
XR_427780.1:n.3608-5_3608-3del
XM_005268502.4:c.3715-5_3715-3del	XP_005268559.1:n.3715-5_3715-3del
XM_005268503.4:c.3712-5_3712-3del	XP_005268560.1:n.3712-5_3712-3del
XM_005268504.4:c.3712-5_3712-3del	XP_005268561.1:n.3712-5_3712-3del
XM_005268505.4:c.3604-5_3604-3del	XP_005268562.1:n.3604-5_3604-3del
XM_005268506.4:c.3601-5_3601-3del	XP_005268563.1:n.3601-5_3601-3del
XM_005268507.4:c.3484-5_3484-3del	XP_005268564.1:n.3484-5_3484-3del
XM_011537678.3:c.3535-5_3535-3del	XP_011535980.1:n.3535-5_3535-3del
XM_017009792.2:c.3598-5_3598-3del	XP_016865281.1:n.3598-5_3598-3del
XM_017009793.2:c.3424-5_3424-3del	XP_016865282.1:n.3424-5_3424-3del
XM_017009794.2:c.3310-5_3310-3del	XP_016865283.1:n.3310-5_3310-3del
XR_427778.3:n.3721-5_3721-3del
XR_427780.3:n.3610-5_3610-3del
NM_000356.4:c.3370-5_3370-3del	NP_000347.2:n.3370-5_3370-3del
NM_001135244.2:c.3490-5_3490-3del	NP_001128716.1:n.3490-5_3490-3del
NM_001135245.2:c.3373-5_3373-3del	NP_001128717.1:n.3373-5_3373-3del
NM_001195141.2:c.3487-5_3487-3del	NP_001182070.1:n.3487-5_3487-3del
NM_001371623.1:c.3604-5_3604-3del MANE Select	NP_001358552.1:n.3604-5_3604-3del
NM_001135243.2:c.3601-5_3601-3del	NP_001128715.1:n.3601-5_3601-3del