Canonical Allele Identifier: CA2783454053

Gene: TOPORS SMIM27

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551137_32551138insAGA , CM000671.2:g.32551137_32551138insAGA	GRCh38
NC_000009.11:g.32551135_32551136insAGA , CM000671.1:g.32551135_32551136insAGA	GRCh37
NC_000009.10:g.32541135_32541136insAGA	NCBI36
NG_017050.1:g.6487_6488insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-170_4-169insTCT (TOPORS) MANE Select	ENSP00000353735.2:n.4-170_4-169insTCT
ENST00000680198.1:c.4-170_4-169insTCT	ENSP00000505143.1:n.4-170_4-169insTCT
ENST00000681750.1:c.-239-170_-239-169insTCT	ENSP00000506413.1:n.-239-170_-239-169insTCT
ENST00000360538.6:c.4-170_4-169insTCT (TOPORS)	ENSP00000353735.2:n.4-170_4-169insTCT
ENST00000379858.1:c.3+1296_3+1297insTCT (TOPORS)	ENSP00000369187.1:n.3+1296_3+1297insTCT
NM_001195622.1:c.3+1296_3+1297insTCT (TOPORS)	NP_001182551.1:n.3+1296_3+1297insTCT
NM_005802.4:c.4-170_4-169insTCT (TOPORS)	NP_005793.2:n.4-170_4-169insTCT
XM_024447368.1:c.144_145insAGA (SMIM27)	XP_024303136.1:p.Gly48_Pro49insArg
NM_005802.5:c.4-170_4-169insTCT (TOPORS) MANE Select	NP_005793.2:n.4-170_4-169insTCT
NM_001195622.2:c.3+1296_3+1297insTCT (TOPORS)	NP_001182551.1:n.3+1296_3+1297insTCT