Canonical Allele Identifier: CA713928122

Gene: RAB27A

Linked Data

• ClinVar Variation Id: 1694158
• ClinVar RCV Id: RCV002264504
• dbSNP Id: rs1478402636
• MyVariant Identifiers: chr15:g.55516130_55516132del (hg19) ; chr15:g.55223932_55223934del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55223932_55223934del , CM000677.2:g.55223932_55223934del	GRCh38
NC_000015.9:g.55516130_55516132del , CM000677.1:g.55516130_55516132del	GRCh37
NC_000015.8:g.53303422_53303424del	NCBI36
NG_009103.1:g.70870_70872del , LRG_96:g.70870_70872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697641.1:n.2458_2460del
ENST00000697642.1:c.422_424del	ENSP00000513368.1:p.Arg141_Val142delinsIle
ENST00000697643.1:c.422_424del	ENSP00000513369.1:p.Arg141_Val142delinsIle
ENST00000697644.1:n.2590_2592del
ENST00000336787.6:c.422_424del MANE Select	ENSP00000337761.1:p.Arg141_Val142delinsIle
ENST00000336787.5:c.422_424del	ENSP00000337761.1:p.Arg141_Val142delinsIle
ENST00000396307.6:c.422_424del	ENSP00000379601.2:p.Arg141_Val142delinsIle
ENST00000564609.5:c.422_424del	ENSP00000455012.1:p.Arg141_Val142delinsIle
ENST00000566877.5:c.422_424del	ENSP00000454695.1:p.Arg141_Val142delinsIle
ENST00000567380.5:c.422_424del	ENSP00000458127.1:p.Arg141_Val142delinsIle
ENST00000569493.5:c.422_424del	ENSP00000456059.1:p.Arg141_Val142delinsIle
NM_004580.4:c.422_424del	NP_004571.2:p.Arg141_Val142delinsIle
NM_183234.2:c.422_424del	NP_899057.1:p.Arg141_Val142delinsIle
NM_183235.2:c.422_424del	NP_899058.1:p.Arg141_Val142delinsIle
NM_183236.2:c.422_424del	NP_899059.1:p.Arg141_Val142delinsIle
XM_005254576.3:c.422_424del	XP_005254633.1:p.Arg141_Val142delinsIle
XM_011521852.1:c.422_424del	XP_011520154.1:p.Arg141_Val142delinsIle
XM_011521853.1:c.422_424del	XP_011520155.1:p.Arg141_Val142delinsIle
XM_011521854.1:c.422_424del	XP_011520156.1:p.Arg141_Val142delinsIle
XM_011521855.1:c.422_424del	XP_011520157.1:p.Arg141_Val142delinsIle
XM_011521856.1:c.422_424del	XP_011520158.1:p.Arg141_Val142delinsIle
XM_005254576.5:c.422_424del	XP_005254633.1:p.Arg141_Val142delinsIle
XM_011521855.3:c.422_424del	XP_011520157.1:p.Arg141_Val142delinsIle
XM_011521856.2:c.422_424del	XP_011520158.1:p.Arg141_Val142delinsIle
XM_024450009.1:c.422_424del	XP_024305777.1:p.Arg141_Val142delinsIle
NM_183235.3:c.422_424del MANE Select	NP_899058.1:p.Arg141_Val142delinsIle
NM_004580.5:c.422_424del	NP_004571.2:p.Arg141_Val142delinsIle
NM_183236.3:c.422_424del	NP_899059.1:p.Arg141_Val142delinsIle