Canonical Allele Identifier: CA863300636

Gene: TOPORS SMIM27

Linked Data

• dbSNP Id: rs1215033090
• gnomAD v3: 9-32551141-T-TC
• gnomAD v4: 9-32551141-T-TC
• MyVariant Identifiers: chr9:g.32551139_32551140insC (hg19) ; chr9:g.32551141_32551142insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551146dup , CM000671.2:g.32551146dup	GRCh38
NC_000009.11:g.32551144dup , CM000671.1:g.32551144dup	GRCh37
NC_000009.10:g.32541144dup	NCBI36
NG_017050.1:g.6483dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-174dup (TOPORS) MANE Select	ENSP00000353735.2:n.4-174dup
ENST00000680198.1:c.4-174dup	ENSP00000505143.1:n.4-174dup
ENST00000681750.1:c.-239-174dup	ENSP00000506413.1:n.-239-174dup
ENST00000360538.6:c.4-174dup (TOPORS)	ENSP00000353735.2:n.4-174dup
ENST00000379858.1:c.3+1292dup (TOPORS)	ENSP00000369187.1:n.3+1292dup
NM_001195622.1:c.3+1292dup (TOPORS)	NP_001182551.1:n.3+1292dup
NM_005802.4:c.4-174dup (TOPORS)	NP_005793.2:n.4-174dup
XM_024447368.1:c.153dup (SMIM27)	XP_024303136.1:p.Ala52ArgfsTer26
NM_005802.5:c.4-174dup (TOPORS) MANE Select	NP_005793.2:n.4-174dup
NM_001195622.2:c.3+1292dup (TOPORS)	NP_001182551.1:n.3+1292dup