Canonical Allele Identifier: CA2783453998

Gene: TOPORS SMIM27

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551031_32551032insACA , CM000671.2:g.32551031_32551032insACA	GRCh38
NC_000009.11:g.32551029_32551030insACA , CM000671.1:g.32551029_32551030insACA	GRCh37
NC_000009.10:g.32541029_32541030insACA	NCBI36
NG_017050.1:g.6593_6594insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-64_4-63insTGT (TOPORS) MANE Select	ENSP00000353735.2:n.4-64_4-63insTGT
ENST00000680198.1:c.4-64_4-63insTGT	ENSP00000505143.1:n.4-64_4-63insTGT
ENST00000681750.1:c.-239-64_-239-63insTGT	ENSP00000506413.1:n.-239-64_-239-63insTGT
ENST00000360538.6:c.4-64_4-63insTGT (TOPORS)	ENSP00000353735.2:n.4-64_4-63insTGT
ENST00000379858.1:c.3+1402_3+1403insTGT (TOPORS)	ENSP00000369187.1:n.3+1402_3+1403insTGT
NM_001195622.1:c.3+1402_3+1403insTGT (TOPORS)	NP_001182551.1:n.3+1402_3+1403insTGT
NM_005802.4:c.4-64_4-63insTGT (TOPORS)	NP_005793.2:n.4-64_4-63insTGT
XM_024447368.1:c.38_39insACA (SMIM27)	XP_024303136.1:p.Pro13_Pro14insHis
NM_005802.5:c.4-64_4-63insTGT (TOPORS) MANE Select	NP_005793.2:n.4-64_4-63insTGT
NM_001195622.2:c.3+1402_3+1403insTGT (TOPORS)	NP_001182551.1:n.3+1402_3+1403insTGT