Canonical Allele Identifier: CA269768
Gene: TCOF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150389947dup , CM000667.2:g.150389947dup GRCh38
NC_000005.9:g.149769510dup , CM000667.1:g.149769510dup GRCh37
NC_000005.8:g.149749703dup NCBI36
NG_011341.1:g.37309dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000427724.7:c.3107dup ENSP00000390717.3:p.Ser1036ArgfsTer28
ENST00000643257.2:c.3107dup MANE Select ENSP00000493815.1:p.Ser1036ArgfsTer?
ENST00000650162.1:c.2876dup ENSP00000497075.1:p.Ser959ArgfsTer28
ENST00000674413.1:c.2506dup
ENST00000323668.11:c.2876dup ENSP00000325223.6:p.Ser959ArgfsTer?
ENST00000377797.7:c.3107dup ENSP00000367028.4:p.Ser1036ArgfsTer?
ENST00000427724.6:c.3107dup ENSP00000390717.2:p.Ser1036ArgfsTer28
ENST00000439160.6:c.3107dup ENSP00000406888.2:p.Ser1036ArgfsTer28
ENST00000445265.6:c.2876dup ENSP00000409944.2:p.Ser959ArgfsTer?
ENST00000504761.6:c.3107dup ENSP00000421655.2:p.Ser1036ArgfsTer?
ENST00000506630.1:n.1dup
ENST00000506767.1:c.541dup
ENST00000513346.5:c.3218dup ENSP00000427484.1:p.Ser1073ArgfsTer28
ENST00000514442.5:n.1907dup
ENST00000515516.1:c.343-6796dup ENSP00000426471.1:n.343-6796dup
NM_000356.3:c.2876dup NP_000347.2:p.Ser959ArgfsTer?
NM_001135243.1:c.3107dup NP_001128715.1:p.Ser1036ArgfsTer?
NM_001135244.1:c.3107dup NP_001128716.1:p.Ser1036ArgfsTer28
NM_001135245.1:c.2876dup NP_001128717.1:p.Ser959ArgfsTer?
NM_001195141.1:c.3107dup NP_001182070.1:p.Ser1036ArgfsTer28
XM_005268502.2:c.3218dup XP_005268559.1:p.Ser1073ArgfsTer?
XM_005268503.2:c.3215dup XP_005268560.1:p.Ser1072ArgfsTer?
XM_005268504.2:c.3218dup XP_005268561.1:p.Ser1073ArgfsTer?
XM_005268505.2:c.3107dup XP_005268562.1:p.Ser1036ArgfsTer?
XM_005268506.2:c.3218dup XP_005268563.1:p.Ser1073ArgfsTer28
XM_005268507.2:c.2987dup XP_005268564.1:p.Ser996ArgfsTer?
XM_011537678.1:c.3038dup XP_011535980.1:p.Ser1013ArgfsTer?
XR_427778.1:n.3222dup
XR_427779.1:n.3222dup
XR_427780.1:n.3111dup
XM_005268502.4:c.3218dup XP_005268559.1:p.Ser1073ArgfsTer?
XM_005268503.4:c.3215dup XP_005268560.1:p.Ser1072ArgfsTer?
XM_005268504.4:c.3218dup XP_005268561.1:p.Ser1073ArgfsTer?
XM_005268505.4:c.3107dup XP_005268562.1:p.Ser1036ArgfsTer?
XM_005268506.4:c.3218dup XP_005268563.1:p.Ser1073ArgfsTer28
XM_005268507.4:c.2987dup XP_005268564.1:p.Ser996ArgfsTer?
XM_011537678.3:c.3038dup XP_011535980.1:p.Ser1013ArgfsTer?
XM_017009792.2:c.3218dup XP_016865281.1:p.Ser1073ArgfsTer28
XM_017009793.2:c.2927dup XP_016865282.1:p.Ser976ArgfsTer?
XM_017009794.2:c.2927dup XP_016865283.1:p.Ser976ArgfsTer28
XR_427778.3:n.3224dup
XR_427779.2:n.3224dup
XR_427780.3:n.3113dup
NM_000356.4:c.2876dup NP_000347.2:p.Ser959ArgfsTer?
NM_001135244.2:c.3107dup NP_001128716.1:p.Ser1036ArgfsTer28
NM_001135245.2:c.2876dup NP_001128717.1:p.Ser959ArgfsTer?
NM_001195141.2:c.3107dup NP_001182070.1:p.Ser1036ArgfsTer28
NM_001371623.1:c.3107dup MANE Select NP_001358552.1:p.Ser1036ArgfsTer?
NM_001135243.2:c.3107dup NP_001128715.1:p.Ser1036ArgfsTer?