Canonical Allele Identifier: CA2679245080

Gene: RAB23

Linked Data

• gnomAD v4: 6-57194769-C-CCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57194771_57194773dup , CM000668.2:g.57194771_57194773dup	GRCh38
NC_000006.11:g.57059569_57059571dup , CM000668.1:g.57059569_57059571dup	GRCh37
NC_000006.10:g.57167528_57167530dup	NCBI36
NG_012170.1:g.32509_32511dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000468148.6:c.479_481dup MANE Select	ENSP00000417610.1:p.Glu160_Val161insGlu
ENST00000317483.4:c.479_481dup	ENSP00000320413.3:p.Glu160_Val161insGlu
ENST00000468148.5:c.479_481dup	ENSP00000417610.1:p.Glu160_Val161insGlu
NM_001278666.1:c.479_481dup	NP_001265595.1:p.Glu160_Val161insGlu
NM_001278667.1:c.479_481dup	NP_001265596.1:p.Glu160_Val161insGlu
NM_001278668.1:c.479_481dup	NP_001265597.1:p.Glu160_Val161insGlu
NM_016277.4:c.479_481dup	NP_057361.3:p.Glu160_Val161insGlu
NM_183227.2:c.479_481dup	NP_899050.1:p.Glu160_Val161insGlu
NR_103822.1:n.341-838_341-836dup
XM_005249179.2:c.399-838_399-836dup	XP_005249236.1:n.399-838_399-836dup
NM_016277.5:c.479_481dup MANE Select	NP_057361.3:p.Glu160_Val161insGlu
NM_001278666.2:c.479_481dup	NP_001265595.1:p.Glu160_Val161insGlu
NM_001278667.2:c.479_481dup	NP_001265596.1:p.Glu160_Val161insGlu
NM_001278668.2:c.479_481dup	NP_001265597.1:p.Glu160_Val161insGlu
NM_183227.3:c.479_481dup	NP_899050.1:p.Glu160_Val161insGlu
NR_103822.2:n.334-838_334-836dup