Canonical Allele Identifier: CA10604239

Gene: RAB28

Linked Data

• ClinVar Variation Id: 282613
• ClinVar RCV Id: RCV000324052
• dbSNP Id: rs886042436
• MyVariant Identifiers: chr4:g.13378190_13378191del (hg19) ; chr4:g.13376566_13376567del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.13376567_13376568del , CM000666.2:g.13376567_13376568del	GRCh38
NC_000004.11:g.13378191_13378192del , CM000666.1:g.13378191_13378192del	GRCh37
NC_000004.10:g.12987289_12987290del	NCBI36
NG_033891.1:g.112799_112800del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288723.9:c.551_552del MANE Plus Clinical	ENSP00000288723.4:p.Lys184SerfsTer?
ENST00000330852.10:c.551_552del MANE Select	ENSP00000328551.5:p.Lys184SerfsTer27
ENST00000288723.8:c.551_552del	ENSP00000288723.4:p.Lys184SerfsTer?
ENST00000330852.9:c.551_552del	ENSP00000328551.5:p.Lys184SerfsTer27
ENST00000338176.8:c.551_552del	ENSP00000340079.4:p.Lys184SerfsTer18
ENST00000504644.1:c.160_161del
ENST00000508274.5:c.*133_*134del	ENSP00000424043.1:n.*133_*134del
ENST00000511649.5:c.318_319del
ENST00000630951.1:c.*133_*134del	ENSP00000485808.1:n.*133_*134del
NM_001017979.2:c.551_552del	NP_001017979.1:p.Lys184SerfsTer27
NM_001159601.1:c.551_552del	NP_001153073.1:p.Lys184SerfsTer18
NM_004249.3:c.551_552del	NP_004240.2:p.Lys184SerfsTer?
XM_005248215.3:c.551_552del	XP_005248272.1:p.Lys184SerfsTer18
XM_011513911.1:c.551_552del	XP_011512213.1:p.Lys184SerfsTer?
XM_011513912.1:c.320_321del	XP_011512214.1:p.Lys107SerfsTer27
XR_925360.1:n.766_767del
XR_925361.1:n.766_767del
NM_001017979.3:c.551_552del MANE Select	NP_001017979.1:p.Lys184SerfsTer27
NM_004249.4:c.551_552del MANE Plus Clinical	NP_004240.2:p.Lys184SerfsTer?
NM_001159601.2:c.551_552del	NP_001153073.1:p.Lys184SerfsTer18