Canonical Allele Identifier: CA2783454038

Gene: TOPORS SMIM27

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551088_32551089insGTC , CM000671.2:g.32551088_32551089insGTC	GRCh38
NC_000009.11:g.32551086_32551087insGTC , CM000671.1:g.32551086_32551087insGTC	GRCh37
NC_000009.10:g.32541086_32541087insGTC	NCBI36
NG_017050.1:g.6536_6537insGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-121_4-120insGAC (TOPORS) MANE Select	ENSP00000353735.2:n.4-121_4-120insGAC
ENST00000680198.1:c.4-121_4-120insGAC	ENSP00000505143.1:n.4-121_4-120insGAC
ENST00000681750.1:c.-239-121_-239-120insGAC	ENSP00000506413.1:n.-239-121_-239-120insGAC
ENST00000360538.6:c.4-121_4-120insGAC (TOPORS)	ENSP00000353735.2:n.4-121_4-120insGAC
ENST00000379858.1:c.3+1345_3+1346insGAC (TOPORS)	ENSP00000369187.1:n.3+1345_3+1346insGAC
NM_001195622.1:c.3+1345_3+1346insGAC (TOPORS)	NP_001182551.1:n.3+1345_3+1346insGAC
NM_005802.4:c.4-121_4-120insGAC (TOPORS)	NP_005793.2:n.4-121_4-120insGAC
XM_024447368.1:c.95_96insGTC (SMIM27)	XP_024303136.1:p.Asp32delinsGluSer
NM_005802.5:c.4-121_4-120insGAC (TOPORS) MANE Select	NP_005793.2:n.4-121_4-120insGAC
NM_001195622.2:c.3+1345_3+1346insGAC (TOPORS)	NP_001182551.1:n.3+1345_3+1346insGAC