Canonical Allele Identifier: CA2783454003

Gene: TOPORS SMIM27

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551045_32551046del , CM000671.2:g.32551045_32551046del	GRCh38
NC_000009.11:g.32551043_32551044del , CM000671.1:g.32551043_32551044del	GRCh37
NC_000009.10:g.32541043_32541044del	NCBI36
NG_017050.1:g.6582_6583del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-75_4-74del (TOPORS) MANE Select	ENSP00000353735.2:n.4-75_4-74del
ENST00000680198.1:c.4-75_4-74del	ENSP00000505143.1:n.4-75_4-74del
ENST00000681750.1:c.-239-75_-239-74del	ENSP00000506413.1:n.-239-75_-239-74del
ENST00000360538.6:c.4-75_4-74del (TOPORS)	ENSP00000353735.2:n.4-75_4-74del
ENST00000379858.1:c.3+1391_3+1392del (TOPORS)	ENSP00000369187.1:n.3+1391_3+1392del
NM_001195622.1:c.3+1391_3+1392del (TOPORS)	NP_001182551.1:n.3+1391_3+1392del
NM_005802.4:c.4-75_4-74del (TOPORS)	NP_005793.2:n.4-75_4-74del
XM_024447368.1:c.52_53del (SMIM27)	XP_024303136.1:p.Ala18IlefsTer?
NM_005802.5:c.4-75_4-74del (TOPORS) MANE Select	NP_005793.2:n.4-75_4-74del
NM_001195622.2:c.3+1391_3+1392del (TOPORS)	NP_001182551.1:n.3+1391_3+1392del