Canonical Allele Identifier: CA805587619

Gene: TCOF1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150398445_150398447del , CM000667.2:g.150398445_150398447del	GRCh38
NC_000005.9:g.149778008_149778010del , CM000667.1:g.149778008_149778010del	GRCh37
NC_000005.8:g.149758201_149758203del	NCBI36
NG_011341.1:g.45807_45809del

Transcript Alleles

HGVS	Amino-acid Change
NM_001371623.1:c.4437_4439del MANE Select	NP_001358552.1:p.Lys1480del
ENST00000643257.2:c.4437_4439del MANE Select	ENSP00000493815.1:p.Lys1480del
NM_000356.3:c.4203_4205del	NP_000347.2:p.Lys1402del
NM_000356.4:c.4203_4205del	NP_000347.2:p.Lys1402del
NM_001135243.1:c.4434_4436del	NP_001128715.1:p.Lys1479del
NM_001135243.2:c.4434_4436del	NP_001128715.1:p.Lys1479del
NM_001135244.1:c.4323_4325del	NP_001128716.1:p.Lys1442del
NM_001135244.2:c.4323_4325del	NP_001128716.1:p.Lys1442del
NM_001135245.1:c.4206_4208del	NP_001128717.1:p.Lys1403del
NM_001135245.2:c.4206_4208del	NP_001128717.1:p.Lys1403del
NM_001195141.1:c.4320_4322del	NP_001182070.1:p.Lys1441del
NM_001195141.2:c.4320_4322del	NP_001182070.1:p.Lys1441del
ENST00000323668.11:c.4203_4205del	ENSP00000325223.6:p.Lys1402del
ENST00000377797.7:c.4434_4436del	ENSP00000367028.4:p.Lys1479del
ENST00000427724.7:c.4320_4322del	ENSP00000390717.3:p.Lys1441del
ENST00000439160.6:c.4323_4325del	ENSP00000406888.2:p.Lys1442del
ENST00000445265.6:c.4206_4208del	ENSP00000409944.2:p.Lys1403del
ENST00000504761.6:c.4434_4436del	ENSP00000421655.2:p.Lys1479del
ENST00000513346.5:c.4434_4436del	ENSP00000427484.1:p.Lys1479del
ENST00000515516.1:c.534_536del	ENSP00000426471.1:p.Lys179del
XM_005268502.2:c.4548_4550del	XP_005268559.1:p.Lys1517del
XM_005268502.4:c.4548_4550del	XP_005268559.1:p.Lys1517del
XM_005268503.2:c.4545_4547del	XP_005268560.1:p.Lys1516del
XM_005268503.4:c.4545_4547del	XP_005268560.1:p.Lys1516del
XM_005268504.2:c.4545_4547del	XP_005268561.1:p.Lys1516del
XM_005268504.4:c.4545_4547del	XP_005268561.1:p.Lys1516del
XM_005268505.2:c.4437_4439del	XP_005268562.1:p.Lys1480del
XM_005268505.4:c.4437_4439del	XP_005268562.1:p.Lys1480del
XM_005268506.2:c.4434_4436del	XP_005268563.1:p.Lys1479del
XM_005268506.4:c.4434_4436del	XP_005268563.1:p.Lys1479del
XM_005268507.2:c.4317_4319del	XP_005268564.1:p.Lys1440del
XM_005268507.4:c.4317_4319del	XP_005268564.1:p.Lys1440del
XM_011537678.1:c.4368_4370del	XP_011535980.1:p.Lys1457del
XM_011537678.3:c.4368_4370del	XP_011535980.1:p.Lys1457del
XM_017009792.2:c.4431_4433del	XP_016865281.1:p.Lys1478del
XM_017009793.2:c.4257_4259del	XP_016865282.1:p.Lys1420del
XM_017009794.2:c.4143_4145del	XP_016865283.1:p.Lys1382del