Canonical Allele Identifier: CA587565267

Gene: TOPORS SMIM27

Linked Data

• dbSNP Id: rs1400224440
• gnomAD v2: 9-32551215-CACTG-C
• gnomAD v3: 9-32551217-CACTG-C
• gnomAD v4: 9-32551217-CACTG-C
• MyVariant Identifiers: chr9:g.32551216_32551219del (hg19) ; chr9:g.32551218_32551221del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551223_32551226del , CM000671.2:g.32551223_32551226del	GRCh38
NC_000009.11:g.32551221_32551224del , CM000671.1:g.32551221_32551224del	GRCh37
NC_000009.10:g.32541221_32541224del	NCBI36
NG_017050.1:g.6404_6407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-253_4-250del (TOPORS) MANE Select	ENSP00000353735.2:n.4-253_4-250del
ENST00000453396.5:n.80_83del (SMIM27)
ENST00000680198.1:c.4-253_4-250del	ENSP00000505143.1:n.4-253_4-250del
ENST00000681750.1:c.-240+144_-240+147del	ENSP00000506413.1:n.-240+144_-240+147del
ENST00000360538.6:c.4-253_4-250del (TOPORS)	ENSP00000353735.2:n.4-253_4-250del
ENST00000379858.1:c.3+1213_3+1216del (TOPORS)	ENSP00000369187.1:n.3+1213_3+1216del
NM_001195622.1:c.3+1213_3+1216del (TOPORS)	NP_001182551.1:n.3+1213_3+1216del
NM_005802.4:c.4-253_4-250del (TOPORS)	NP_005793.2:n.4-253_4-250del
NR_033991.1:n.80_83del (SMIM27)
NM_001349118.1:c.-672_-669del (SMIM27)	NP_001336047.1:n.-672_-669del
XM_024447368.1:c.205+25_205+28del (SMIM27)	XP_024303136.1:n.205+25_205+28del
NM_005802.5:c.4-253_4-250del (TOPORS) MANE Select	NP_005793.2:n.4-253_4-250del
NM_001195622.2:c.3+1213_3+1216del (TOPORS)	NP_001182551.1:n.3+1213_3+1216del