Canonical Allele Identifier: CA2783454057

Gene: TOPORS SMIM27

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551218_32551219del , CM000671.2:g.32551218_32551219del	GRCh38
NC_000009.11:g.32551216_32551217del , CM000671.1:g.32551216_32551217del	GRCh37
NC_000009.10:g.32541216_32541217del	NCBI36
NG_017050.1:g.6408_6409del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-249_4-248del (TOPORS) MANE Select	ENSP00000353735.2:n.4-249_4-248del
ENST00000453396.5:n.75_76del (SMIM27)
ENST00000680198.1:c.4-249_4-248del	ENSP00000505143.1:n.4-249_4-248del
ENST00000681750.1:c.-240+148_-240+149del	ENSP00000506413.1:n.-240+148_-240+149del
ENST00000360538.6:c.4-249_4-248del (TOPORS)	ENSP00000353735.2:n.4-249_4-248del
ENST00000379858.1:c.3+1217_3+1218del (TOPORS)	ENSP00000369187.1:n.3+1217_3+1218del
NM_001195622.1:c.3+1217_3+1218del (TOPORS)	NP_001182551.1:n.3+1217_3+1218del
NM_005802.4:c.4-249_4-248del (TOPORS)	NP_005793.2:n.4-249_4-248del
NR_033991.1:n.75_76del (SMIM27)
NM_001349118.1:c.-677_-676del (SMIM27)	NP_001336047.1:n.-677_-676del
XM_024447368.1:c.205+20_205+21del (SMIM27)	XP_024303136.1:n.205+20_205+21del
NM_005802.5:c.4-249_4-248del (TOPORS) MANE Select	NP_005793.2:n.4-249_4-248del
NM_001195622.2:c.3+1217_3+1218del (TOPORS)	NP_001182551.1:n.3+1217_3+1218del