Canonical Allele Identifier: CA1122990592

Gene: TOPORS SMIM27

Linked Data

• dbSNP Id: rs1821246838
• gnomAD v3: 9-32551161-CGGA-C
• gnomAD v4: 9-32551161-CGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551167_32551169del , CM000671.2:g.32551167_32551169del	GRCh38
NC_000009.11:g.32551165_32551167del , CM000671.1:g.32551165_32551167del	GRCh37
NC_000009.10:g.32541165_32541167del	NCBI36
NG_017050.1:g.6461_6463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-196_4-194del (TOPORS) MANE Select	ENSP00000353735.2:n.4-196_4-194del
ENST00000453396.5:n.24_26del (SMIM27)
ENST00000680198.1:c.4-196_4-194del	ENSP00000505143.1:n.4-196_4-194del
ENST00000681750.1:c.-239-196_-239-194del	ENSP00000506413.1:n.-239-196_-239-194del
ENST00000360538.6:c.4-196_4-194del (TOPORS)	ENSP00000353735.2:n.4-196_4-194del
ENST00000379858.1:c.3+1270_3+1272del (TOPORS)	ENSP00000369187.1:n.3+1270_3+1272del
NM_001195622.1:c.3+1270_3+1272del (TOPORS)	NP_001182551.1:n.3+1270_3+1272del
NM_005802.4:c.4-196_4-194del (TOPORS)	NP_005793.2:n.4-196_4-194del
NR_033991.1:n.24_26del (SMIM27)
NM_001349118.1:c.-728_-726del (SMIM27)	NP_001336047.1:n.-728_-726del
XM_024447368.1:c.174_176del (SMIM27)	XP_024303136.1:p.Gly59del
NM_005802.5:c.4-196_4-194del (TOPORS) MANE Select	NP_005793.2:n.4-196_4-194del
NM_001195622.2:c.3+1270_3+1272del (TOPORS)	NP_001182551.1:n.3+1270_3+1272del