Canonical Allele Identifier: CA2689683695

Gene: TOPORS SMIM27

Linked Data

• gnomAD v4: 9-32551172-AGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551176_32551177del , CM000671.2:g.32551176_32551177del	GRCh38
NC_000009.11:g.32551174_32551175del , CM000671.1:g.32551174_32551175del	GRCh37
NC_000009.10:g.32541174_32541175del	NCBI36
NG_017050.1:g.6451_6452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-206_4-205del (TOPORS) MANE Select	ENSP00000353735.2:n.4-206_4-205del
ENST00000453396.5:n.33_34del (SMIM27)
ENST00000680198.1:c.4-206_4-205del	ENSP00000505143.1:n.4-206_4-205del
ENST00000681750.1:c.-240+191_-240+192del	ENSP00000506413.1:n.-240+191_-240+192del
ENST00000360538.6:c.4-206_4-205del (TOPORS)	ENSP00000353735.2:n.4-206_4-205del
ENST00000379858.1:c.3+1260_3+1261del (TOPORS)	ENSP00000369187.1:n.3+1260_3+1261del
NM_001195622.1:c.3+1260_3+1261del (TOPORS)	NP_001182551.1:n.3+1260_3+1261del
NM_005802.4:c.4-206_4-205del (TOPORS)	NP_005793.2:n.4-206_4-205del
NR_033991.1:n.33_34del (SMIM27)
NM_001349118.1:c.-719_-718del (SMIM27)	NP_001336047.1:n.-719_-718del
XM_024447368.1:c.183_184del (SMIM27)	XP_024303136.1:p.Asp62ProfsTer15
NM_005802.5:c.4-206_4-205del (TOPORS) MANE Select	NP_005793.2:n.4-206_4-205del
NM_001195622.2:c.3+1260_3+1261del (TOPORS)	NP_001182551.1:n.3+1260_3+1261del