Canonical Allele Identifier: CA2783453994

Gene: TOPORS SMIM27

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551023_32551024insAGT , CM000671.2:g.32551023_32551024insAGT	GRCh38
NC_000009.11:g.32551021_32551022insAGT , CM000671.1:g.32551021_32551022insAGT	GRCh37
NC_000009.10:g.32541021_32541022insAGT	NCBI36
NG_017050.1:g.6601_6602insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-56_4-55insACT (TOPORS) MANE Select	ENSP00000353735.2:n.4-56_4-55insACT
ENST00000680198.1:c.4-56_4-55insACT	ENSP00000505143.1:n.4-56_4-55insACT
ENST00000681750.1:c.-239-56_-239-55insACT	ENSP00000506413.1:n.-239-56_-239-55insACT
ENST00000360538.6:c.4-56_4-55insACT (TOPORS)	ENSP00000353735.2:n.4-56_4-55insACT
ENST00000379858.1:c.3+1410_3+1411insACT (TOPORS)	ENSP00000369187.1:n.3+1410_3+1411insACT
NM_001195622.1:c.3+1410_3+1411insACT (TOPORS)	NP_001182551.1:n.3+1410_3+1411insACT
NM_005802.4:c.4-56_4-55insACT (TOPORS)	NP_005793.2:n.4-56_4-55insACT
XM_024447368.1:c.30_31insAGT (SMIM27)	XP_024303136.1:p.Arg10_Asp11insSer
NM_005802.5:c.4-56_4-55insACT (TOPORS) MANE Select	NP_005793.2:n.4-56_4-55insACT
NM_001195622.2:c.3+1410_3+1411insACT (TOPORS)	NP_001182551.1:n.3+1410_3+1411insACT