Canonical Allele Identifier: CA2783454048

Gene: TOPORS SMIM27

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551118_32551119insA , CM000671.2:g.32551118_32551119insA	GRCh38
NC_000009.11:g.32551116_32551117insA , CM000671.1:g.32551116_32551117insA	GRCh37
NC_000009.10:g.32541116_32541117insA	NCBI36
NG_017050.1:g.6506_6507insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-151_4-150insT (TOPORS) MANE Select	ENSP00000353735.2:n.4-151_4-150insT
ENST00000680198.1:c.4-151_4-150insT	ENSP00000505143.1:n.4-151_4-150insT
ENST00000681750.1:c.-239-151_-239-150insT	ENSP00000506413.1:n.-239-151_-239-150insT
ENST00000360538.6:c.4-151_4-150insT (TOPORS)	ENSP00000353735.2:n.4-151_4-150insT
ENST00000379858.1:c.3+1315_3+1316insT (TOPORS)	ENSP00000369187.1:n.3+1315_3+1316insT
NM_001195622.1:c.3+1315_3+1316insT (TOPORS)	NP_001182551.1:n.3+1315_3+1316insT
NM_005802.4:c.4-151_4-150insT (TOPORS)	NP_005793.2:n.4-151_4-150insT
XM_024447368.1:c.125_126insA (SMIM27)	XP_024303136.1:p.His43AlafsTer?
NM_005802.5:c.4-151_4-150insT (TOPORS) MANE Select	NP_005793.2:n.4-151_4-150insT
NM_001195622.2:c.3+1315_3+1316insT (TOPORS)	NP_001182551.1:n.3+1315_3+1316insT