Canonical Allele Identifier: CA16044289
Gene: BRPF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375486
ClinVar RCV Id: RCV000417031 RCV000505254
dbSNP Id: rs1057519511
MyVariant Identifiers: chr3:g.9776186_9776187del (hg19) chr3:g.9734502_9734503del (hg38)
PubMed: PMID:27939640
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9734502_9734503del , CM000665.2:g.9734502_9734503del GRCh38
NC_000003.11:g.9776186_9776187del , CM000665.1:g.9776186_9776187del GRCh37
NC_000003.10:g.9751186_9751187del NCBI36
NG_052955.1:g.7774_7775del

Transcript Alleles

HGVS Amino-acid change
ENST00000420291.3:c.362_363del ENSP00000416728.3:p.Glu121GlyfsTer2
ENST00000424362.7:c.362_363del ENSP00000398863.2:p.Glu121GlyfsTer2
ENST00000426583.2:c.362_363del ENSP00000404235.2:p.Glu121GlyfsTer2
ENST00000457855.2:c.362_363del ENSP00000410210.2:p.Glu121GlyfsTer2
ENST00000672126.2:c.362_363del ENSP00000500718.1:p.Glu121GlyfsTer2
ENST00000672515.2:c.362_363del ENSP00000499951.2:p.Glu121GlyfsTer2
ENST00000673551.2:c.362_363del ENSP00000500672.1:p.Glu121GlyfsTer2
ENST00000682208.1:c.362_363del ENSP00000508123.1:p.Glu121GlyfsTer2
ENST00000682980.1:c.362_363del ENSP00000508198.1:p.Glu121GlyfsTer2
ENST00000683423.1:c.362_363del ENSP00000507659.1:p.Glu121GlyfsTer2
ENST00000683639.1:c.362_363del ENSP00000506903.1:p.Glu121GlyfsTer2
ENST00000683743.1:c.362_363del ENSP00000507469.1:p.Glu121GlyfsTer2
ENST00000684199.1:c.362_363del ENSP00000506921.1:p.Glu121GlyfsTer2
ENST00000684206.1:c.362_363del ENSP00000507148.1:p.Glu121GlyfsTer2
ENST00000684223.1:c.362_363del ENSP00000506789.1:p.Glu121GlyfsTer2
ENST00000684333.1:c.362_363del ENSP00000508256.1:p.Glu121GlyfsTer2
ENST00000684608.1:c.362_363del ENSP00000507969.1:p.Glu121GlyfsTer2
ENST00000383829.7:c.362_363del MANE Select ENSP00000373340.2:p.Glu121GlyfsTer2
ENST00000424362.6:c.362_363del ENSP00000398863.1:p.Glu121GlyfsTer2
ENST00000672126.1:c.362_363del ENSP00000500718.1:p.Glu121GlyfsTer2
ENST00000672515.1:c.354_355del
ENST00000673551.1:c.362_363del ENSP00000500672.1:p.Glu121GlyfsTer2
ENST00000383829.6:c.362_363del ENSP00000373340.2:p.Glu121GlyfsTer2
ENST00000424362.5:c.362_363del ENSP00000398863.1:p.Glu121GlyfsTer2
ENST00000433861.6:c.362_363del ENSP00000402485.2:p.Glu121GlyfsTer2
ENST00000457855.1:c.362_363del ENSP00000410210.1:p.Glu121GlyfsTer2
NM_001003694.1:c.362_363del NP_001003694.1:p.Glu121GlyfsTer2
NM_004634.2:c.362_363del NP_004625.2:p.Glu121GlyfsTer2
XM_005265449.1:c.362_363del XP_005265506.1:p.Glu121GlyfsTer2
XM_005265450.1:c.362_363del XP_005265507.1:p.Glu121GlyfsTer2
XM_005265451.1:c.362_363del XP_005265508.1:p.Glu121GlyfsTer2
XM_005265452.1:c.362_363del XP_005265509.1:p.Glu121GlyfsTer2
XM_005265453.1:c.362_363del XP_005265510.1:p.Glu121GlyfsTer2
XM_005265454.1:c.362_363del XP_005265511.1:p.Glu121GlyfsTer2
XM_011534101.1:c.362_363del XP_011532403.1:p.Glu121GlyfsTer2
XM_011534102.1:c.362_363del XP_011532404.1:p.Glu121GlyfsTer2
NM_001319049.1:c.362_363del NP_001305978.1:p.Glu121GlyfsTer2
NM_001319050.1:c.362_363del NP_001305979.1:p.Glu121GlyfsTer2
XM_024453741.1:c.362_363del XP_024309509.1:p.Glu121GlyfsTer2
XM_024453742.1:c.362_363del XP_024309510.1:p.Glu121GlyfsTer2
XM_024453743.1:c.362_363del XP_024309511.1:p.Glu121GlyfsTer2
XM_024453744.1:c.362_363del XP_024309512.1:p.Glu121GlyfsTer2
XR_001740257.1:n.782_783del
XR_001740258.1:n.782_783del
NM_001003694.2:c.362_363del MANE Select NP_001003694.1:p.Glu121GlyfsTer2
NR_160918.1:n.776_777del
NM_001319049.2:c.362_363del NP_001305978.1:p.Glu121GlyfsTer2
NM_001319050.2:c.362_363del NP_001305979.1:p.Glu121GlyfsTer2
NM_004634.3:c.362_363del NP_004625.2:p.Glu121GlyfsTer2
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