Canonical Allele Identifier: CA2783453989

Gene: TOPORS SMIM27

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551011_32551012insACT , CM000671.2:g.32551011_32551012insACT	GRCh38
NC_000009.11:g.32551009_32551010insACT , CM000671.1:g.32551009_32551010insACT	GRCh37
NC_000009.10:g.32541009_32541010insACT	NCBI36
NG_017050.1:g.6613_6614insAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-44_4-43insAGT (TOPORS) MANE Select	ENSP00000353735.2:n.4-44_4-43insAGT
ENST00000680198.1:c.4-44_4-43insAGT	ENSP00000505143.1:n.4-44_4-43insAGT
ENST00000681750.1:c.-239-44_-239-43insAGT	ENSP00000506413.1:n.-239-44_-239-43insAGT
ENST00000360538.6:c.4-44_4-43insAGT (TOPORS)	ENSP00000353735.2:n.4-44_4-43insAGT
ENST00000379858.1:c.3+1422_3+1423insAGT (TOPORS)	ENSP00000369187.1:n.3+1422_3+1423insAGT
NM_001195622.1:c.3+1422_3+1423insAGT (TOPORS)	NP_001182551.1:n.3+1422_3+1423insAGT
NM_005802.4:c.4-44_4-43insAGT (TOPORS)	NP_005793.2:n.4-44_4-43insAGT
XM_024447368.1:c.18_19insACT (SMIM27)	XP_024303136.1:p.Gln6_Gly7insThr
NM_005802.5:c.4-44_4-43insAGT (TOPORS) MANE Select	NP_005793.2:n.4-44_4-43insAGT
NM_001195622.2:c.3+1422_3+1423insAGT (TOPORS)	NP_001182551.1:n.3+1422_3+1423insAGT