Canonical Allele Identifier: CA1590926023

Gene: TCOF1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393521_150393525delinsACAGG , CM000667.2:g.150393521_150393525delinsACAGG	GRCh38
NC_000005.9:g.149773084_149773088delinsACAGG , CM000667.1:g.149773084_149773088delinsACAGG	GRCh37
NC_000005.8:g.149753277_149753281delinsACAGG	NCBI36
NG_011341.1:g.40883_40887delinsACAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000427724.7:c.3636_3640delinsACAGG	ENSP00000390717.3:p.Gln1212=
ENST00000643257.2:c.3753_3757delinsACAGG MANE Select	ENSP00000493815.1:p.Gln1251=
ENST00000650162.1:c.3408_3412delinsACAGG	ENSP00000497075.1:p.Gln1136=
ENST00000674413.1:c.3152_3156delinsACAGG
ENST00000323668.11:c.3519_3523delinsACAGG	ENSP00000325223.6:p.Gln1173=
ENST00000377797.7:c.3750_3754delinsACAGG	ENSP00000367028.4:p.Gln1250=
ENST00000427724.6:c.3636_3640delinsACAGG	ENSP00000390717.2:p.Gln1212=
ENST00000439160.6:c.3639_3643delinsACAGG	ENSP00000406888.2:p.Gln1213=
ENST00000445265.6:c.3522_3526delinsACAGG	ENSP00000409944.2:p.Gln1174=
ENST00000504761.6:c.3750_3754delinsACAGG	ENSP00000421655.2:p.Gln1250=
ENST00000513346.5:c.3750_3754delinsACAGG	ENSP00000427484.1:p.Gln1250=
ENST00000514442.5:n.3800_3804delinsACAGG
ENST00000515516.1:c.343-3222_343-3218delinsACAGG	ENSP00000426471.1:n.343-3222_343-3218deli...
NM_000356.3:c.3519_3523delinsACAGG	NP_000347.2:p.Gln1173=
NM_001135243.1:c.3750_3754delinsACAGG	NP_001128715.1:p.Gln1250=
NM_001135244.1:c.3639_3643delinsACAGG	NP_001128716.1:p.Gln1213=
NM_001135245.1:c.3522_3526delinsACAGG	NP_001128717.1:p.Gln1174=
NM_001195141.1:c.3636_3640delinsACAGG	NP_001182070.1:p.Gln1212=
XM_005268502.2:c.3864_3868delinsACAGG	XP_005268559.1:p.Gln1288=
XM_005268503.2:c.3861_3865delinsACAGG	XP_005268560.1:p.Gln1287=
XM_005268504.2:c.3861_3865delinsACAGG	XP_005268561.1:p.Gln1287=
XM_005268505.2:c.3753_3757delinsACAGG	XP_005268562.1:p.Gln1251=
XM_005268506.2:c.3750_3754delinsACAGG	XP_005268563.1:p.Gln1250=
XM_005268507.2:c.3633_3637delinsACAGG	XP_005268564.1:p.Gln1211=
XM_011537678.1:c.3684_3688delinsACAGG	XP_011535980.1:p.Gln1228=
XM_005268502.4:c.3864_3868delinsACAGG	XP_005268559.1:p.Gln1288=
XM_005268503.4:c.3861_3865delinsACAGG	XP_005268560.1:p.Gln1287=
XM_005268504.4:c.3861_3865delinsACAGG	XP_005268561.1:p.Gln1287=
XM_005268505.4:c.3753_3757delinsACAGG	XP_005268562.1:p.Gln1251=
XM_005268506.4:c.3750_3754delinsACAGG	XP_005268563.1:p.Gln1250=
XM_005268507.4:c.3633_3637delinsACAGG	XP_005268564.1:p.Gln1211=
XM_011537678.3:c.3684_3688delinsACAGG	XP_011535980.1:p.Gln1228=
XM_017009792.2:c.3747_3751delinsACAGG	XP_016865281.1:p.Gln1249=
XM_017009793.2:c.3573_3577delinsACAGG	XP_016865282.1:p.Gln1191=
XM_017009794.2:c.3459_3463delinsACAGG	XP_016865283.1:p.Gln1153=
XR_427778.3:n.3870_3874delinsACAGG
XR_427780.3:n.3759_3763delinsACAGG
NM_000356.4:c.3519_3523delinsACAGG	NP_000347.2:p.Gln1173=
NM_001135244.2:c.3639_3643delinsACAGG	NP_001128716.1:p.Gln1213=
NM_001135245.2:c.3522_3526delinsACAGG	NP_001128717.1:p.Gln1174=
NM_001195141.2:c.3636_3640delinsACAGG	NP_001182070.1:p.Gln1212=
NM_001371623.1:c.3753_3757delinsACAGG MANE Select	NP_001358552.1:p.Gln1251=
NM_001135243.2:c.3750_3754delinsACAGG	NP_001128715.1:p.Gln1250=