Canonical Allele Identifier: CA1122990567

Gene: TOPORS SMIM27

Linked Data

• dbSNP Id: rs1821244830
• gnomAD v3: 9-32551121-AC-A
• gnomAD v4: 9-32551121-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551123del , CM000671.2:g.32551123del	GRCh38
NC_000009.11:g.32551121del , CM000671.1:g.32551121del	GRCh37
NC_000009.10:g.32541121del	NCBI36
NG_017050.1:g.6503del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-154del (TOPORS) MANE Select	ENSP00000353735.2:n.4-154del
ENST00000680198.1:c.4-154del	ENSP00000505143.1:n.4-154del
ENST00000681750.1:c.-239-154del	ENSP00000506413.1:n.-239-154del
ENST00000360538.6:c.4-154del (TOPORS)	ENSP00000353735.2:n.4-154del
ENST00000379858.1:c.3+1312del (TOPORS)	ENSP00000369187.1:n.3+1312del
NM_001195622.1:c.3+1312del (TOPORS)	NP_001182551.1:n.3+1312del
NM_005802.4:c.4-154del (TOPORS)	NP_005793.2:n.4-154del
XM_024447368.1:c.130del (SMIM27)	XP_024303136.1:p.Arg44GlyfsTer?
NM_005802.5:c.4-154del (TOPORS) MANE Select	NP_005793.2:n.4-154del
NM_001195622.2:c.3+1312del (TOPORS)	NP_001182551.1:n.3+1312del