Canonical Allele Identifier: CA2580613843
Gene: RAB27A HGNC NCBI

Linked Data

ClinVar Variation Id: 2501797
ClinVar RCV Id: RCV003228216

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.55223885_55223888del , CM000677.2:g.55223885_55223888del GRCh38
NC_000015.9:g.55516083_55516086del , CM000677.1:g.55516083_55516086del GRCh37
NC_000015.8:g.53303375_53303378del NCBI36
NG_009103.1:g.70918_70921del , LRG_96:g.70918_70921del

Transcript Alleles

HGVS Amino-acid Change
ENST00000697641.1:n.2503+3_2503+6del
ENST00000697642.1:c.467+3_467+6del ENSP00000513368.1:n.467+3_467+6del
ENST00000697643.1:c.467+3_467+6del ENSP00000513369.1:n.467+3_467+6del
ENST00000697644.1:n.2635+3_2635+6del
ENST00000336787.6:c.467+3_467+6del MANE Select ENSP00000337761.1:n.467+3_467+6del
ENST00000336787.5:c.467+3_467+6del ENSP00000337761.1:n.467+3_467+6del
ENST00000396307.6:c.467+3_467+6del ENSP00000379601.2:n.467+3_467+6del
ENST00000564609.5:c.467+3_467+6del ENSP00000455012.1:n.467+3_467+6del
ENST00000566877.5:c.467+3_467+6del ENSP00000454695.1:n.467+3_467+6del
ENST00000569493.5:c.467+3_467+6del ENSP00000456059.1:n.467+3_467+6del
NM_004580.4:c.467+3_467+6del NP_004571.2:n.467+3_467+6del
NM_183234.2:c.467+3_467+6del NP_899057.1:n.467+3_467+6del
NM_183235.2:c.467+3_467+6del NP_899058.1:n.467+3_467+6del
NM_183236.2:c.467+3_467+6del NP_899059.1:n.467+3_467+6del
XM_005254576.3:c.467+3_467+6del XP_005254633.1:n.467+3_467+6del
XM_011521852.1:c.467+3_467+6del XP_011520154.1:n.467+3_467+6del
XM_011521853.1:c.467+3_467+6del XP_011520155.1:n.467+3_467+6del
XM_011521854.1:c.467+3_467+6del XP_011520156.1:n.467+3_467+6del
XM_011521855.1:c.467+3_467+6del XP_011520157.1:n.467+3_467+6del
XM_011521856.1:c.467+3_467+6del XP_011520158.1:n.467+3_467+6del
XM_005254576.5:c.467+3_467+6del XP_005254633.1:n.467+3_467+6del
XM_011521855.3:c.467+3_467+6del XP_011520157.1:n.467+3_467+6del
XM_011521856.2:c.467+3_467+6del XP_011520158.1:n.467+3_467+6del
XM_024450009.1:c.467+3_467+6del XP_024305777.1:n.467+3_467+6del
NM_183235.3:c.467+3_467+6del MANE Select NP_899058.1:n.467+3_467+6del
NM_004580.5:c.467+3_467+6del NP_004571.2:n.467+3_467+6del
NM_183236.3:c.467+3_467+6del NP_899059.1:n.467+3_467+6del