Canonical Allele Identifier: CA2689683585

Gene: TOPORS SMIM27

Linked Data

• gnomAD v4: 9-32551040-CCCGCGCATCAAAACACAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551042_32551059del , CM000671.2:g.32551042_32551059del	GRCh38
NC_000009.11:g.32551040_32551057del , CM000671.1:g.32551040_32551057del	GRCh37
NC_000009.10:g.32541040_32541057del	NCBI36
NG_017050.1:g.6567_6584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-90_4-73del (TOPORS) MANE Select	ENSP00000353735.2:n.4-90_4-73del
ENST00000680198.1:c.4-90_4-73del	ENSP00000505143.1:n.4-90_4-73del
ENST00000681750.1:c.-239-90_-239-73del	ENSP00000506413.1:n.-239-90_-239-73del
ENST00000360538.6:c.4-90_4-73del (TOPORS)	ENSP00000353735.2:n.4-90_4-73del
ENST00000379858.1:c.3+1376_3+1393del (TOPORS)	ENSP00000369187.1:n.3+1376_3+1393del
NM_001195622.1:c.3+1376_3+1393del (TOPORS)	NP_001182551.1:n.3+1376_3+1393del
NM_005802.4:c.4-90_4-73del (TOPORS)	NP_005793.2:n.4-90_4-73del
XM_024447368.1:c.49_66del (SMIM27)	XP_024303136.1:p.Arg17_Asn22del
NM_005802.5:c.4-90_4-73del (TOPORS) MANE Select	NP_005793.2:n.4-90_4-73del
NM_001195622.2:c.3+1376_3+1393del (TOPORS)	NP_001182551.1:n.3+1376_3+1393del