Canonical Allele Identifier: CA243384

Gene: TOPORS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32542506_32542507delinsTA , CM000671.2:g.32542506_32542507delinsTA	GRCh38
NC_000009.11:g.32542504_32542505delinsTA , CM000671.1:g.32542504_32542505delinsTA	GRCh37
NC_000009.10:g.32532504_32532505delinsTA	NCBI36
NG_017050.1:g.15118_15119delinsTA

Transcript Alleles

HGVS	Amino-acid Change
NM_005802.5:c.2018_2019delinsTA MANE Select	NP_005793.2:p.Arg673Leu
ENST00000360538.7:c.2018_2019delinsTA MANE Select	ENSP00000353735.2:p.Arg673Leu
NM_001195622.1:c.1823_1824delinsTA	NP_001182551.1:p.Arg608Leu
NM_001195622.2:c.1823_1824delinsTA	NP_001182551.1:p.Arg608Leu
NM_005802.4:c.2018_2019delinsTA	NP_005793.2:p.Arg673Leu
ENST00000360538.6:c.2018_2019delinsTA	ENSP00000353735.2:p.Arg673Leu
ENST00000379858.1:c.1823_1824delinsTA	ENSP00000369187.1:p.Arg608Leu
ENST00000680198.1:c.198+8267_198+8268delinsTA	ENSP00000505143.1:n.198+8267_198+8268delinsTA
ENST00000681750.1:c.-45+8267_-45+8268delinsTA	ENSP00000506413.1:n.-45+8267_-45+8268delinsTA