Canonical Allele Identifier: CA2783454008

Gene: TOPORS SMIM27

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551046_32551047del , CM000671.2:g.32551046_32551047del	GRCh38
NC_000009.11:g.32551044_32551045del , CM000671.1:g.32551044_32551045del	GRCh37
NC_000009.10:g.32541044_32541045del	NCBI36
NG_017050.1:g.6578_6579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-79_4-78del (TOPORS) MANE Select	ENSP00000353735.2:n.4-79_4-78del
ENST00000680198.1:c.4-79_4-78del	ENSP00000505143.1:n.4-79_4-78del
ENST00000681750.1:c.-239-79_-239-78del	ENSP00000506413.1:n.-239-79_-239-78del
ENST00000360538.6:c.4-79_4-78del (TOPORS)	ENSP00000353735.2:n.4-79_4-78del
ENST00000379858.1:c.3+1387_3+1388del (TOPORS)	ENSP00000369187.1:n.3+1387_3+1388del
NM_001195622.1:c.3+1387_3+1388del (TOPORS)	NP_001182551.1:n.3+1387_3+1388del
NM_005802.4:c.4-79_4-78del (TOPORS)	NP_005793.2:n.4-79_4-78del
XM_024447368.1:c.53_54del (SMIM27)	XP_024303136.1:p.Ala18ValfsTer?
NM_005802.5:c.4-79_4-78del (TOPORS) MANE Select	NP_005793.2:n.4-79_4-78del
NM_001195622.2:c.3+1387_3+1388del (TOPORS)	NP_001182551.1:n.3+1387_3+1388del