Canonical Allele Identifier: CA1844699068

Gene: TOPORS SMIM27

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551157_32551158delinsAC , CM000671.2:g.32551157_32551158delinsAC	GRCh38
NC_000009.11:g.32551155_32551156delinsAC , CM000671.1:g.32551155_32551156delinsAC	GRCh37
NC_000009.10:g.32541155_32541156delinsAC	NCBI36
NG_017050.1:g.6467_6468delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-190_4-189delinsGT (TOPORS) MANE Select	ENSP00000353735.2:n.4-190_4-189delinsGT
ENST00000453396.5:n.14_15delinsAC (SMIM27)
ENST00000680198.1:c.4-190_4-189delinsGT	ENSP00000505143.1:n.4-190_4-189delinsGT
ENST00000681750.1:c.-239-190_-239-189delinsGT	ENSP00000506413.1:n.-239-190_-239-189delinsGT
ENST00000360538.6:c.4-190_4-189delinsGT (TOPORS)	ENSP00000353735.2:n.4-190_4-189delinsGT
ENST00000379858.1:c.3+1276_3+1277delinsGT (TOPORS)	ENSP00000369187.1:n.3+1276_3+1277delinsGT
NM_001195622.1:c.3+1276_3+1277delinsGT (TOPORS)	NP_001182551.1:n.3+1276_3+1277delinsGT
NM_005802.4:c.4-190_4-189delinsGT (TOPORS)	NP_005793.2:n.4-190_4-189delinsGT
NR_033991.1:n.14_15delinsAC (SMIM27)
NM_001349118.1:c.-738_-737delinsAC (SMIM27)	NP_001336047.1:n.-738_-737delinsAC
XM_024447368.1:c.164_165delinsAC (SMIM27)	XP_024303136.1:p.Asp55=
NM_005802.5:c.4-190_4-189delinsGT (TOPORS) MANE Select	NP_005793.2:n.4-190_4-189delinsGT
NM_001195622.2:c.3+1276_3+1277delinsGT (TOPORS)	NP_001182551.1:n.3+1276_3+1277delinsGT