Canonical Allele Identifier: CA1844699092

Gene: TOPORS SMIM27

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551161_32551164delinsCGGA , CM000671.2:g.32551161_32551164delinsCGGA	GRCh38
NC_000009.11:g.32551159_32551162delinsCGGA , CM000671.1:g.32551159_32551162delinsCGGA	GRCh37
NC_000009.10:g.32541159_32541162delinsCGGA	NCBI36
NG_017050.1:g.6461_6464delinsTCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-196_4-193delinsTCCG (TOPORS) MANE Select	ENSP00000353735.2:n.4-196_4-193delinsTCCG
ENST00000453396.5:n.18_21delinsCGGA (SMIM27)
ENST00000680198.1:c.4-196_4-193delinsTCCG	ENSP00000505143.1:n.4-196_4-193delinsTCCG
ENST00000681750.1:c.-239-196_-239-193delinsTCCG	ENSP00000506413.1:n.-239-196_-239-193delinsTCCG
ENST00000360538.6:c.4-196_4-193delinsTCCG (TOPORS)	ENSP00000353735.2:n.4-196_4-193delinsTCCG
ENST00000379858.1:c.3+1270_3+1273delinsTCCG (TOPORS)	ENSP00000369187.1:n.3+1270_3+1273delinsTCCG
NM_001195622.1:c.3+1270_3+1273delinsTCCG (TOPORS)	NP_001182551.1:n.3+1270_3+1273delinsTCCG
NM_005802.4:c.4-196_4-193delinsTCCG (TOPORS)	NP_005793.2:n.4-196_4-193delinsTCCG
NR_033991.1:n.18_21delinsCGGA (SMIM27)
NM_001349118.1:c.-734_-731delinsCGGA (SMIM27)	NP_001336047.1:n.-734_-731delinsCGGA
XM_024447368.1:c.168_171delinsCGGA (SMIM27)	XP_024303136.1:p.Pro56=
NM_005802.5:c.4-196_4-193delinsTCCG (TOPORS) MANE Select	NP_005793.2:n.4-196_4-193delinsTCCG
NM_001195622.2:c.3+1270_3+1273delinsTCCG (TOPORS)	NP_001182551.1:n.3+1270_3+1273delinsTCCG