Canonical Allele Identifier: CA2689683694

Gene: TOPORS SMIM27

Linked Data

• gnomAD v4: 9-32551170-GCAGCGCGACCCTCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551173_32551187del , CM000671.2:g.32551173_32551187del	GRCh38
NC_000009.11:g.32551171_32551185del , CM000671.1:g.32551171_32551185del	GRCh37
NC_000009.10:g.32541171_32541185del	NCBI36
NG_017050.1:g.6440_6454del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-217_4-203del (TOPORS) MANE Select	ENSP00000353735.2:n.4-217_4-203del
ENST00000453396.5:n.30_44del (SMIM27)
ENST00000680198.1:c.4-217_4-203del	ENSP00000505143.1:n.4-217_4-203del
ENST00000681750.1:c.-240+180_-240+194del	ENSP00000506413.1:n.-240+180_-240+194del
ENST00000360538.6:c.4-217_4-203del (TOPORS)	ENSP00000353735.2:n.4-217_4-203del
ENST00000379858.1:c.3+1249_3+1263del (TOPORS)	ENSP00000369187.1:n.3+1249_3+1263del
NM_001195622.1:c.3+1249_3+1263del (TOPORS)	NP_001182551.1:n.3+1249_3+1263del
NM_005802.4:c.4-217_4-203del (TOPORS)	NP_005793.2:n.4-217_4-203del
NR_033991.1:n.30_44del (SMIM27)
NM_001349118.1:c.-722_-708del (SMIM27)	NP_001336047.1:n.-722_-708del
XM_024447368.1:c.180_194del (SMIM27)	XP_024303136.1:p.Gln60_Pro64del
NM_005802.5:c.4-217_4-203del (TOPORS) MANE Select	NP_005793.2:n.4-217_4-203del
NM_001195622.2:c.3+1249_3+1263del (TOPORS)	NP_001182551.1:n.3+1249_3+1263del