Canonical Allele Identifier: CA2689683562

Gene: TOPORS SMIM27

Linked Data

• gnomAD v4: 9-32551024-GACCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551029_32551032del , CM000671.2:g.32551029_32551032del	GRCh38
NC_000009.11:g.32551027_32551030del , CM000671.1:g.32551027_32551030del	GRCh37
NC_000009.10:g.32541027_32541030del	NCBI36
NG_017050.1:g.6597_6600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-60_4-57del (TOPORS) MANE Select	ENSP00000353735.2:n.4-60_4-57del
ENST00000680198.1:c.4-60_4-57del	ENSP00000505143.1:n.4-60_4-57del
ENST00000681750.1:c.-239-60_-239-57del	ENSP00000506413.1:n.-239-60_-239-57del
ENST00000360538.6:c.4-60_4-57del (TOPORS)	ENSP00000353735.2:n.4-60_4-57del
ENST00000379858.1:c.3+1406_3+1409del (TOPORS)	ENSP00000369187.1:n.3+1406_3+1409del
NM_001195622.1:c.3+1406_3+1409del (TOPORS)	NP_001182551.1:n.3+1406_3+1409del
NM_005802.4:c.4-60_4-57del (TOPORS)	NP_005793.2:n.4-60_4-57del
XM_024447368.1:c.36_39del (SMIM27)	XP_024303136.1:p.Pro14AlafsTer?
NM_005802.5:c.4-60_4-57del (TOPORS) MANE Select	NP_005793.2:n.4-60_4-57del
NM_001195622.2:c.3+1406_3+1409del (TOPORS)	NP_001182551.1:n.3+1406_3+1409del