Canonical Allele Identifier: CA1844699070

Gene: TOPORS SMIM27

Linked Data

• dbSNP Id: rs1821246454

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551161del , CM000671.2:g.32551161del	GRCh38
NC_000009.11:g.32551159del , CM000671.1:g.32551159del	GRCh37
NC_000009.10:g.32541159del	NCBI36
NG_017050.1:g.6467del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-190del (TOPORS) MANE Select	ENSP00000353735.2:n.4-190del
ENST00000453396.5:n.18del (SMIM27)
ENST00000680198.1:c.4-190del	ENSP00000505143.1:n.4-190del
ENST00000681750.1:c.-239-190del	ENSP00000506413.1:n.-239-190del
ENST00000360538.6:c.4-190del (TOPORS)	ENSP00000353735.2:n.4-190del
ENST00000379858.1:c.3+1276del (TOPORS)	ENSP00000369187.1:n.3+1276del
NM_001195622.1:c.3+1276del (TOPORS)	NP_001182551.1:n.3+1276del
NM_005802.4:c.4-190del (TOPORS)	NP_005793.2:n.4-190del
NR_033991.1:n.18del (SMIM27)
NM_001349118.1:c.-734del (SMIM27)	NP_001336047.1:n.-734del
XM_024447368.1:c.168del (SMIM27)	XP_024303136.1:p.Gly57GlufsTer?
NM_005802.5:c.4-190del (TOPORS) MANE Select	NP_005793.2:n.4-190del
NM_001195622.2:c.3+1276del (TOPORS)	NP_001182551.1:n.3+1276del