Canonical Allele Identifier: CA863300639

Gene: TOPORS SMIM27

Linked Data

• dbSNP Id: rs1465576767
• gnomAD v4: 9-32551173-G-GC
• MyVariant Identifiers: chr9:g.32551171_32551172insC (hg19) ; chr9:g.32551173_32551174insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551174dup , CM000671.2:g.32551174dup	GRCh38
NC_000009.11:g.32551172dup , CM000671.1:g.32551172dup	GRCh37
NC_000009.10:g.32541172dup	NCBI36
NG_017050.1:g.6451dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-206dup (TOPORS) MANE Select	ENSP00000353735.2:n.4-206dup
ENST00000453396.5:n.31dup (SMIM27)
ENST00000680198.1:c.4-206dup	ENSP00000505143.1:n.4-206dup
ENST00000681750.1:c.-240+191dup	ENSP00000506413.1:n.-240+191dup
ENST00000360538.6:c.4-206dup (TOPORS)	ENSP00000353735.2:n.4-206dup
ENST00000379858.1:c.3+1260dup (TOPORS)	ENSP00000369187.1:n.3+1260dup
NM_001195622.1:c.3+1260dup (TOPORS)	NP_001182551.1:n.3+1260dup
NM_005802.4:c.4-206dup (TOPORS)	NP_005793.2:n.4-206dup
NR_033991.1:n.31dup (SMIM27)
NM_001349118.1:c.-721dup (SMIM27)	NP_001336047.1:n.-721dup
XM_024447368.1:c.181dup (SMIM27)	XP_024303136.1:p.Arg61ProfsTer17
NM_005802.5:c.4-206dup (TOPORS) MANE Select	NP_005793.2:n.4-206dup
NM_001195622.2:c.3+1260dup (TOPORS)	NP_001182551.1:n.3+1260dup