Canonical Allele Identifier: CA241597

Gene: TOPORS

Linked Data

• ClinVar Variation Id: 195253
• ClinVar RCV Id: RCV000175814
• dbSNP Id: rs794727280
• MyVariant Identifiers: chr9:g.32550763_32550766del (hg19) ; chr9:g.32550765_32550768del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550770_32550773del , CM000671.2:g.32550770_32550773del	GRCh38
NC_000009.11:g.32550768_32550771del , CM000671.1:g.32550768_32550771del	GRCh37
NC_000009.10:g.32540768_32540771del	NCBI36
NG_017050.1:g.6857_6860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.198+6_198+9del MANE Select	ENSP00000353735.2:n.198+6_198+9del
ENST00000680198.1:c.198+6_198+9del	ENSP00000505143.1:n.198+6_198+9del
ENST00000681750.1:c.-45+6_-45+9del	ENSP00000506413.1:n.-45+6_-45+9del
ENST00000360538.6:c.198+6_198+9del	ENSP00000353735.2:n.198+6_198+9del
ENST00000379858.1:c.3+1666_3+1669del	ENSP00000369187.1:n.3+1666_3+1669del
NM_001195622.1:c.3+1666_3+1669del	NP_001182551.1:n.3+1666_3+1669del
NM_005802.4:c.198+6_198+9del	NP_005793.2:n.198+6_198+9del
NM_005802.5:c.198+6_198+9del MANE Select	NP_005793.2:n.198+6_198+9del
NM_001195622.2:c.3+1666_3+1669del	NP_001182551.1:n.3+1666_3+1669del