Canonical Allele Identifier: CA167356

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 664535
• ClinVar RCV Id: RCV000130909 ; RCV000822648
• dbSNP Id: rs587783377
• MyVariant Identifiers: chr17:g.59878638_59878640delinsAT (hg19) ; chr17:g.61801277_61801279delinsAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61801278_61801279delinsT , CM000679.2:g.61801278_61801279delinsT	GRCh38
NC_000017.10:g.59878639_59878640delinsT , CM000679.1:g.59878639_59878640delinsT	GRCh37
NC_000017.9:g.57233421_57233422delinsT	NCBI36
NG_007409.2:g.67281_67282delinsA , LRG_300:g.67281_67282delinsA

Transcript Alleles

HGVS	Amino-acid change
ENST00000579028.2:c.607_608delinsA	ENSP00000463827.2:p.Leu203IlefsTer2
ENST00000584322.2:c.1114_1115delinsA	ENSP00000463272.2:p.Leu372IlefsTer2
ENST00000682066.1:c.607_608delinsA	ENSP00000507191.1:p.Leu203IlefsTer2
ENST00000682453.1:c.1114_1115delinsA	ENSP00000506943.1:p.Leu372IlefsTer2
ENST00000682477.1:c.1114_1115delinsA	ENSP00000507075.1:p.Leu372IlefsTer2
ENST00000682589.1:n.2855_2856delinsA
ENST00000682611.1:c.607_608delinsA	ENSP00000508326.1:p.Leu203IlefsTer2
ENST00000682755.1:c.919-1980_919-1979delinsA	ENSP00000507660.1:n.919-1980_919-1979deli...
ENST00000682989.1:c.1114_1115delinsA	ENSP00000507786.1:p.Leu372IlefsTer2
ENST00000683039.1:c.1114_1115delinsA	ENSP00000508303.1:p.Leu372IlefsTer2
ENST00000683235.1:c.1114_1115delinsA	ENSP00000507646.1:p.Leu372IlefsTer2
ENST00000683381.1:c.1114_1115delinsA	ENSP00000508184.1:p.Leu372IlefsTer2
ENST00000683692.1:c.692_693delinsA	ENSP00000507964.1:n.692_693delinsA
ENST00000684584.1:c.607_608delinsA	ENSP00000508044.1:p.Leu203IlefsTer2
ENST00000259008.7:c.1114_1115delinsA MANE Select	ENSP00000259008.2:p.Leu372IlefsTer2
ENST00000259008.6:c.1114_1115delinsA	ENSP00000259008.2:p.Leu372IlefsTer2
ENST00000577598.5:c.1114_1115delinsA	ENSP00000464654.1:p.Leu372IlefsTer2
NM_032043.2:c.1114_1115delinsA , LRG_300t1:c.1114_1115delinsA	NP_114432.2:p.Leu372IlefsTer2
XM_011525332.1:c.1114_1115delinsA	XP_011523634.1:p.Leu372IlefsTer2
XM_011525333.1:c.1114_1115delinsA	XP_011523635.1:p.Leu372IlefsTer2
XM_011525334.1:c.1114_1115delinsA	XP_011523636.1:p.Leu372IlefsTer2
XM_011525335.1:c.1114_1115delinsA	XP_011523637.1:p.Leu372IlefsTer2
XM_011525336.1:c.1114_1115delinsA	XP_011523638.1:p.Leu372IlefsTer2
XM_011525337.1:c.1114_1115delinsA	XP_011523639.1:p.Leu372IlefsTer2
XM_011525338.1:c.631_632delinsA	XP_011523640.1:p.Leu211IlefsTer2
XM_011525339.1:c.1114_1115delinsA	XP_011523641.1:p.Leu372IlefsTer2
XM_011525340.1:c.1114_1115delinsA	XP_011523642.1:p.Leu372IlefsTer2
XM_011525341.1:c.1114_1115delinsA	XP_011523643.1:p.Leu372IlefsTer2
XM_011525332.3:c.1114_1115delinsA	XP_011523634.1:p.Leu372IlefsTer2
XM_011525333.3:c.1114_1115delinsA	XP_011523635.1:p.Leu372IlefsTer2
XM_011525334.2:c.1114_1115delinsA	XP_011523636.1:p.Leu372IlefsTer2
XM_011525335.3:c.1114_1115delinsA	XP_011523637.1:p.Leu372IlefsTer2
XM_011525336.2:c.1114_1115delinsA	XP_011523638.1:p.Leu372IlefsTer2
XM_011525337.2:c.1114_1115delinsA	XP_011523639.1:p.Leu372IlefsTer2
XM_011525338.2:c.631_632delinsA	XP_011523640.1:p.Leu211IlefsTer2
XM_011525339.3:c.1114_1115delinsA	XP_011523641.1:p.Leu372IlefsTer2
XM_011525340.3:c.1114_1115delinsA	XP_011523642.1:p.Leu372IlefsTer2
XM_011525341.3:c.1114_1115delinsA	XP_011523643.1:p.Leu372IlefsTer2
XM_017025200.1:c.631_632delinsA	XP_016880689.1:p.Leu211IlefsTer2
XM_017025201.1:c.571_572delinsA	XP_016880690.1:p.Leu191IlefsTer2
NM_032043.3:c.1114_1115delinsA MANE Select	NP_114432.2:p.Leu372IlefsTer2