Canonical Allele Identifier: CA16042176
Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372101
dbSNP Id: rs1057517648

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61859796del , CM000679.2:g.61859796del GRCh38
NC_000017.10:g.59937157del , CM000679.1:g.59937157del GRCh37
NC_000017.9:g.57291939del NCBI36
NG_007409.2:g.8765del , LRG_300:g.8765del

Transcript Alleles

HGVS Amino-acid change
ENST00000577913.2:c.205+1del
ENST00000584322.2:c.205+1del
ENST00000682369.1:c.205+1del
ENST00000682453.1:c.205+1del
ENST00000682477.1:c.205+1del
ENST00000682589.1:n.1946+1del
ENST00000682755.1:c.205+1del
ENST00000682989.1:c.205+1del
ENST00000683039.1:c.205+1del
ENST00000683235.1:c.205+1del
ENST00000683381.1:c.205+1del
ENST00000683672.1:c.-92-2564del ENSP00000506781.1:n.-92-2564del
ENST00000259008.7:c.205+1del
ENST00000259008.6:c.205+1del
ENST00000577598.5:c.205+1del
ENST00000577913.1:c.205+1del
NM_032043.2:c.205+1del , LRG_300t1:c.205+1del
XM_011525332.1:c.205+1del
XM_011525333.1:c.205+1del
XM_011525334.1:c.205+1del
XM_011525335.1:c.205+1del
XM_011525336.1:c.205+1del
XM_011525337.1:c.205+1del
XM_011525339.1:c.205+1del
XM_011525340.1:c.205+1del
XM_011525341.1:c.205+1del
XM_011525332.3:c.205+1del
XM_011525333.3:c.205+1del
XM_011525334.2:c.205+1del
XM_011525335.3:c.205+1del
XM_011525336.2:c.205+1del
XM_011525337.2:c.205+1del
XM_011525339.3:c.205+1del
XM_011525340.3:c.205+1del
XM_011525341.3:c.205+1del
NM_032043.3:c.205+1del