Canonical Allele Identifier: CA2783453987

Gene: TOPORS SMIM27

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551000_32551001insAGAT , CM000671.2:g.32551000_32551001insAGAT	GRCh38
NC_000009.11:g.32550998_32550999insAGAT , CM000671.1:g.32550998_32550999insAGAT	GRCh37
NC_000009.10:g.32540998_32540999insAGAT	NCBI36
NG_017050.1:g.6624_6625insATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-33_4-32insATCT (TOPORS) MANE Select	ENSP00000353735.2:n.4-33_4-32insATCT
ENST00000680198.1:c.4-33_4-32insATCT	ENSP00000505143.1:n.4-33_4-32insATCT
ENST00000681750.1:c.-239-33_-239-32insATCT	ENSP00000506413.1:n.-239-33_-239-32insATCT
ENST00000360538.6:c.4-33_4-32insATCT (TOPORS)	ENSP00000353735.2:n.4-33_4-32insATCT
ENST00000379858.1:c.3+1433_3+1434insATCT (TOPORS)	ENSP00000369187.1:n.3+1433_3+1434insATCT
NM_001195622.1:c.3+1433_3+1434insATCT (TOPORS)	NP_001182551.1:n.3+1433_3+1434insATCT
NM_005802.4:c.4-33_4-32insATCT (TOPORS)	NP_005793.2:n.4-33_4-32insATCT
XM_024447368.1:c.7_8insAGAT (SMIM27)	XP_024303136.1:p.Ala3GlufsTer?
NM_005802.5:c.4-33_4-32insATCT (TOPORS) MANE Select	NP_005793.2:n.4-33_4-32insATCT
NM_001195622.2:c.3+1433_3+1434insATCT (TOPORS)	NP_001182551.1:n.3+1433_3+1434insATCT