Canonical Allele Identifier: CA1844699030

Gene: TOPORS SMIM27

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551141_32551142delinsTC , CM000671.2:g.32551141_32551142delinsTC	GRCh38
NC_000009.11:g.32551139_32551140delinsTC , CM000671.1:g.32551139_32551140delinsTC	GRCh37
NC_000009.10:g.32541139_32541140delinsTC	NCBI36
NG_017050.1:g.6483_6484delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-174_4-173delinsGA (TOPORS) MANE Select	ENSP00000353735.2:n.4-174_4-173delinsGA
ENST00000680198.1:c.4-174_4-173delinsGA	ENSP00000505143.1:n.4-174_4-173delinsGA
ENST00000681750.1:c.-239-174_-239-173delinsGA	ENSP00000506413.1:n.-239-174_-239-173delinsGA
ENST00000360538.6:c.4-174_4-173delinsGA (TOPORS)	ENSP00000353735.2:n.4-174_4-173delinsGA
ENST00000379858.1:c.3+1292_3+1293delinsGA (TOPORS)	ENSP00000369187.1:n.3+1292_3+1293delinsGA
NM_001195622.1:c.3+1292_3+1293delinsGA (TOPORS)	NP_001182551.1:n.3+1292_3+1293delinsGA
NM_005802.4:c.4-174_4-173delinsGA (TOPORS)	NP_005793.2:n.4-174_4-173delinsGA
XM_024447368.1:c.148_149delinsTC (SMIM27)	XP_024303136.1:p.Ser50=
NM_005802.5:c.4-174_4-173delinsGA (TOPORS) MANE Select	NP_005793.2:n.4-174_4-173delinsGA
NM_001195622.2:c.3+1292_3+1293delinsGA (TOPORS)	NP_001182551.1:n.3+1292_3+1293delinsGA