Canonical Allele Identifier: CA1844699178

Gene: TOPORS SMIM27

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551191_32551192delinsTG , CM000671.2:g.32551191_32551192delinsTG	GRCh38
NC_000009.11:g.32551189_32551190delinsTG , CM000671.1:g.32551189_32551190delinsTG	GRCh37
NC_000009.10:g.32541189_32541190delinsTG	NCBI36
NG_017050.1:g.6433_6434delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-224_4-223delinsCA (TOPORS) MANE Select	ENSP00000353735.2:n.4-224_4-223delinsCA
ENST00000453396.5:n.48_49delinsTG (SMIM27)
ENST00000680198.1:c.4-224_4-223delinsCA	ENSP00000505143.1:n.4-224_4-223delinsCA
ENST00000681750.1:c.-240+173_-240+174delinsCA	ENSP00000506413.1:n.-240+173_-240+174delinsCA
ENST00000360538.6:c.4-224_4-223delinsCA (TOPORS)	ENSP00000353735.2:n.4-224_4-223delinsCA
ENST00000379858.1:c.3+1242_3+1243delinsCA (TOPORS)	ENSP00000369187.1:n.3+1242_3+1243delinsCA
NM_001195622.1:c.3+1242_3+1243delinsCA (TOPORS)	NP_001182551.1:n.3+1242_3+1243delinsCA
NM_005802.4:c.4-224_4-223delinsCA (TOPORS)	NP_005793.2:n.4-224_4-223delinsCA
NR_033991.1:n.48_49delinsTG (SMIM27)
NM_001349118.1:c.-704_-703delinsTG (SMIM27)	NP_001336047.1:n.-704_-703delinsTG
XM_024447368.1:c.198_199delinsTG (SMIM27)	XP_024303136.1:p.Leu66=
NM_005802.5:c.4-224_4-223delinsCA (TOPORS) MANE Select	NP_005793.2:n.4-224_4-223delinsCA
NM_001195622.2:c.3+1242_3+1243delinsCA (TOPORS)	NP_001182551.1:n.3+1242_3+1243delinsCA