Canonical Allele Identifier: CA658796233
Gene: BRPF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 522172
ClinVar RCV Id: RCV000624851
dbSNP Id: rs1553693712

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9734168_9734169del , CM000665.2:g.9734168_9734169del GRCh38
NC_000003.11:g.9775852_9775853del , CM000665.1:g.9775852_9775853del GRCh37
NC_000003.10:g.9750852_9750853del NCBI36
NG_052955.1:g.7440_7441del

Transcript Alleles

HGVS Amino-acid Change
ENST00000420291.3:c.28_29del ENSP00000416728.3:p.Phe10LeufsTer8
ENST00000424362.7:c.28_29del ENSP00000398863.2:p.Phe10LeufsTer8
ENST00000426583.2:c.28_29del ENSP00000404235.2:p.Phe10LeufsTer8
ENST00000457855.2:c.28_29del ENSP00000410210.2:p.Phe10LeufsTer8
ENST00000672126.2:c.28_29del ENSP00000500718.1:p.Phe10LeufsTer8
ENST00000672515.2:c.28_29del ENSP00000499951.2:p.Phe10LeufsTer8
ENST00000673551.2:c.28_29del ENSP00000500672.1:p.Phe10LeufsTer8
ENST00000682208.1:c.28_29del ENSP00000508123.1:p.Phe10LeufsTer8
ENST00000682980.1:c.28_29del ENSP00000508198.1:p.Phe10LeufsTer8
ENST00000683423.1:c.28_29del ENSP00000507659.1:p.Phe10LeufsTer8
ENST00000683639.1:c.28_29del ENSP00000506903.1:p.Phe10LeufsTer8
ENST00000683743.1:c.28_29del ENSP00000507469.1:p.Phe10LeufsTer8
ENST00000684199.1:c.28_29del ENSP00000506921.1:p.Phe10LeufsTer8
ENST00000684206.1:c.28_29del ENSP00000507148.1:p.Phe10LeufsTer8
ENST00000684223.1:c.28_29del ENSP00000506789.1:p.Phe10LeufsTer8
ENST00000684333.1:c.28_29del ENSP00000508256.1:p.Phe10LeufsTer8
ENST00000684608.1:c.28_29del ENSP00000507969.1:p.Phe10LeufsTer8
ENST00000383829.7:c.28_29del MANE Select ENSP00000373340.2:p.Phe10LeufsTer8
ENST00000420291.2:c.28_29del ENSP00000416728.2:p.Phe10LeufsTer8
ENST00000424362.6:c.28_29del ENSP00000398863.1:p.Phe10LeufsTer8
ENST00000672126.1:c.28_29del ENSP00000500718.1:p.Phe10LeufsTer8
ENST00000672515.1:c.20_21del
ENST00000673551.1:c.28_29del ENSP00000500672.1:p.Phe10LeufsTer8
ENST00000383829.6:c.28_29del ENSP00000373340.2:p.Phe10LeufsTer8
ENST00000420291.1:c.28_29del ENSP00000416728.1:p.Phe10LeufsTer8
ENST00000424362.5:c.28_29del ENSP00000398863.1:p.Phe10LeufsTer8
ENST00000426583.1:c.28_29del ENSP00000404235.1:p.Phe10LeufsTer8
ENST00000433861.6:c.28_29del ENSP00000402485.2:p.Phe10LeufsTer8
ENST00000457855.1:c.28_29del ENSP00000410210.1:p.Phe10LeufsTer8
NM_001003694.1:c.28_29del NP_001003694.1:p.Phe10LeufsTer8
NM_004634.2:c.28_29del NP_004625.2:p.Phe10LeufsTer8
XM_005265449.1:c.28_29del XP_005265506.1:p.Phe10LeufsTer8
XM_005265450.1:c.28_29del XP_005265507.1:p.Phe10LeufsTer8
XM_005265451.1:c.28_29del XP_005265508.1:p.Phe10LeufsTer8
XM_005265452.1:c.28_29del XP_005265509.1:p.Phe10LeufsTer8
XM_005265453.1:c.28_29del XP_005265510.1:p.Phe10LeufsTer8
XM_005265454.1:c.28_29del XP_005265511.1:p.Phe10LeufsTer8
XM_011534101.1:c.28_29del XP_011532403.1:p.Phe10LeufsTer8
XM_011534102.1:c.28_29del XP_011532404.1:p.Phe10LeufsTer8
NM_001319049.1:c.28_29del NP_001305978.1:p.Phe10LeufsTer8
NM_001319050.1:c.28_29del NP_001305979.1:p.Phe10LeufsTer8
XM_024453741.1:c.28_29del XP_024309509.1:p.Phe10LeufsTer8
XM_024453742.1:c.28_29del XP_024309510.1:p.Phe10LeufsTer8
XM_024453743.1:c.28_29del XP_024309511.1:p.Phe10LeufsTer8
XM_024453744.1:c.28_29del XP_024309512.1:p.Phe10LeufsTer8
XR_001740257.1:n.448_449del
XR_001740258.1:n.448_449del
NM_001003694.2:c.28_29del MANE Select NP_001003694.1:p.Phe10LeufsTer8
NR_160918.1:n.442_443del
NM_001319049.2:c.28_29del NP_001305978.1:p.Phe10LeufsTer8
NM_001319050.2:c.28_29del NP_001305979.1:p.Phe10LeufsTer8
NM_004634.3:c.28_29del NP_004625.2:p.Phe10LeufsTer8