Canonical Allele Identifier: CA2689683698

Gene: TOPORS SMIM27

Linked Data

• gnomAD v4: 9-32551223-C-CTGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551226_32551229dup , CM000671.2:g.32551226_32551229dup	GRCh38
NC_000009.11:g.32551224_32551227dup , CM000671.1:g.32551224_32551227dup	GRCh37
NC_000009.10:g.32541224_32541227dup	NCBI36
NG_017050.1:g.6398_6401dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-259_4-256dup (TOPORS) MANE Select	ENSP00000353735.2:n.4-259_4-256dup
ENST00000453396.5:n.83_86dup (SMIM27)
ENST00000680198.1:c.4-259_4-256dup	ENSP00000505143.1:n.4-259_4-256dup
ENST00000681750.1:c.-240+138_-240+141dup	ENSP00000506413.1:n.-240+138_-240+141dup
ENST00000360538.6:c.4-259_4-256dup (TOPORS)	ENSP00000353735.2:n.4-259_4-256dup
ENST00000379858.1:c.3+1207_3+1210dup (TOPORS)	ENSP00000369187.1:n.3+1207_3+1210dup
NM_001195622.1:c.3+1207_3+1210dup (TOPORS)	NP_001182551.1:n.3+1207_3+1210dup
NM_005802.4:c.4-259_4-256dup (TOPORS)	NP_005793.2:n.4-259_4-256dup
NR_033991.1:n.83_86dup (SMIM27)
NM_001349118.1:c.-669_-666dup (SMIM27)	NP_001336047.1:n.-669_-666dup
XM_024447368.1:c.205+28_205+31dup (SMIM27)	XP_024303136.1:n.205+28_205+31dup
NM_005802.5:c.4-259_4-256dup (TOPORS) MANE Select	NP_005793.2:n.4-259_4-256dup
NM_001195622.2:c.3+1207_3+1210dup (TOPORS)	NP_001182551.1:n.3+1207_3+1210dup