Canonical Allele Identifier: CA2783454056

Gene: TOPORS SMIM27

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551182_32551185dup , CM000671.2:g.32551182_32551185dup	GRCh38
NC_000009.11:g.32551180_32551183dup , CM000671.1:g.32551180_32551183dup	GRCh37
NC_000009.10:g.32541180_32541183dup	NCBI36
NG_017050.1:g.6443_6446dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-214_4-211dup (TOPORS) MANE Select	ENSP00000353735.2:n.4-214_4-211dup
ENST00000453396.5:n.39_42dup (SMIM27)
ENST00000680198.1:c.4-214_4-211dup	ENSP00000505143.1:n.4-214_4-211dup
ENST00000681750.1:c.-240+183_-240+186dup	ENSP00000506413.1:n.-240+183_-240+186dup
ENST00000360538.6:c.4-214_4-211dup (TOPORS)	ENSP00000353735.2:n.4-214_4-211dup
ENST00000379858.1:c.3+1252_3+1255dup (TOPORS)	ENSP00000369187.1:n.3+1252_3+1255dup
NM_001195622.1:c.3+1252_3+1255dup (TOPORS)	NP_001182551.1:n.3+1252_3+1255dup
NM_005802.4:c.4-214_4-211dup (TOPORS)	NP_005793.2:n.4-214_4-211dup
NR_033991.1:n.39_42dup (SMIM27)
NM_001349118.1:c.-713_-710dup (SMIM27)	NP_001336047.1:n.-713_-710dup
XM_024447368.1:c.189_192dup (SMIM27)	XP_024303136.1:p.His65SerfsTer14
NM_005802.5:c.4-214_4-211dup (TOPORS) MANE Select	NP_005793.2:n.4-214_4-211dup
NM_001195622.2:c.3+1252_3+1255dup (TOPORS)	NP_001182551.1:n.3+1252_3+1255dup