Canonical Allele Identifier: CA2783454055

Gene: TOPORS SMIM27

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551143_32551144insACA , CM000671.2:g.32551143_32551144insACA	GRCh38
NC_000009.11:g.32551141_32551142insACA , CM000671.1:g.32551141_32551142insACA	GRCh37
NC_000009.10:g.32541141_32541142insACA	NCBI36
NG_017050.1:g.6481_6482insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-176_4-175insTGT (TOPORS) MANE Select	ENSP00000353735.2:n.4-176_4-175insTGT
ENST00000453396.5:n.1-1_1insACA (SMIM27)
ENST00000680198.1:c.4-176_4-175insTGT	ENSP00000505143.1:n.4-176_4-175insTGT
ENST00000681750.1:c.-239-176_-239-175insTGT	ENSP00000506413.1:n.-239-176_-239-175insTGT
ENST00000360538.6:c.4-176_4-175insTGT (TOPORS)	ENSP00000353735.2:n.4-176_4-175insTGT
ENST00000379858.1:c.3+1290_3+1291insTGT (TOPORS)	ENSP00000369187.1:n.3+1290_3+1291insTGT
NM_001195622.1:c.3+1290_3+1291insTGT (TOPORS)	NP_001182551.1:n.3+1290_3+1291insTGT
NM_005802.4:c.4-176_4-175insTGT (TOPORS)	NP_005793.2:n.4-176_4-175insTGT
NR_033991.1:n.1-1_1insACA (SMIM27)
NM_001349118.1:c.-751-1_-751insACA (SMIM27)	NP_001336047.1:n.-751-1_-751insACA
XM_024447368.1:c.150_151insACA (SMIM27)	XP_024303136.1:p.Ser50_Pro51insThr
NM_005802.5:c.4-176_4-175insTGT (TOPORS) MANE Select	NP_005793.2:n.4-176_4-175insTGT
NM_001195622.2:c.3+1290_3+1291insTGT (TOPORS)	NP_001182551.1:n.3+1290_3+1291insTGT