Canonical Allele Identifier: CA2783454018

Gene: TOPORS SMIM27

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551063_32551064insAGA , CM000671.2:g.32551063_32551064insAGA	GRCh38
NC_000009.11:g.32551061_32551062insAGA , CM000671.1:g.32551061_32551062insAGA	GRCh37
NC_000009.10:g.32541061_32541062insAGA	NCBI36
NG_017050.1:g.6561_6562insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-96_4-95insTCT (TOPORS) MANE Select	ENSP00000353735.2:n.4-96_4-95insTCT
ENST00000680198.1:c.4-96_4-95insTCT	ENSP00000505143.1:n.4-96_4-95insTCT
ENST00000681750.1:c.-239-96_-239-95insTCT	ENSP00000506413.1:n.-239-96_-239-95insTCT
ENST00000360538.6:c.4-96_4-95insTCT (TOPORS)	ENSP00000353735.2:n.4-96_4-95insTCT
ENST00000379858.1:c.3+1370_3+1371insTCT (TOPORS)	ENSP00000369187.1:n.3+1370_3+1371insTCT
NM_001195622.1:c.3+1370_3+1371insTCT (TOPORS)	NP_001182551.1:n.3+1370_3+1371insTCT
NM_005802.4:c.4-96_4-95insTCT (TOPORS)	NP_005793.2:n.4-96_4-95insTCT
XM_024447368.1:c.70_71insAGA (SMIM27)	XP_024303136.1:p.Arg24delinsGlnSer
NM_005802.5:c.4-96_4-95insTCT (TOPORS) MANE Select	NP_005793.2:n.4-96_4-95insTCT
NM_001195622.2:c.3+1370_3+1371insTCT (TOPORS)	NP_001182551.1:n.3+1370_3+1371insTCT