Canonical Allele Identifier: CA587565265

Gene: TOPORS SMIM27

Linked Data

• dbSNP Id: rs1563987302
• gnomAD v2: 9-32551090-A-ACGCCGGCCTCGGGGGCGGGGCTCAGCG
• gnomAD v3: 9-32551092-A-ACGCCGGCCTCGGGGGCGGGGCTCAGCG
• gnomAD v4: 9-32551092-A-ACGCCGGCCTCGGGGGCGGGGCTCAGCG
• MyVariant Identifiers: chr9:g.32551090_32551091insCGCCGGCCTCGGGGGCGGGGCTCAGCG (hg19) ; chr9:g.32551092_32551093insCGCCGGCCTCGGGGGCGGGGCTCAGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551094_32551120dup , CM000671.2:g.32551094_32551120dup	GRCh38
NC_000009.11:g.32551092_32551118dup , CM000671.1:g.32551092_32551118dup	GRCh37
NC_000009.10:g.32541092_32541118dup	NCBI36
NG_017050.1:g.6506_6532dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-151_4-125dup (TOPORS) MANE Select	ENSP00000353735.2:n.4-151_4-125dup
ENST00000680198.1:c.4-151_4-125dup	ENSP00000505143.1:n.4-151_4-125dup
ENST00000681750.1:c.-239-151_-239-125dup	ENSP00000506413.1:n.-239-151_-239-125dup
ENST00000360538.6:c.4-151_4-125dup (TOPORS)	ENSP00000353735.2:n.4-151_4-125dup
ENST00000379858.1:c.3+1315_3+1341dup (TOPORS)	ENSP00000369187.1:n.3+1315_3+1341dup
NM_001195622.1:c.3+1315_3+1341dup (TOPORS)	NP_001182551.1:n.3+1315_3+1341dup
NM_005802.4:c.4-151_4-125dup (TOPORS)	NP_005793.2:n.4-151_4-125dup
XM_024447368.1:c.101_127dup (SMIM27)	XP_024303136.1:p.Ala42_His43insArgArgProArgGlyArgGlySerAla
NM_005802.5:c.4-151_4-125dup (TOPORS) MANE Select	NP_005793.2:n.4-151_4-125dup
NM_001195622.2:c.3+1315_3+1341dup (TOPORS)	NP_001182551.1:n.3+1315_3+1341dup