Canonical Allele Identifier: CA2580094587

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1713218
• ClinVar RCV Id: RCV003156013 ; RCV003774995

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685902_61685903del , CM000679.2:g.61685902_61685903del	GRCh38
NC_000017.10:g.59763263_59763264del , CM000679.1:g.59763263_59763264del	GRCh37
NC_000017.9:g.57118045_57118046del	NCBI36
NG_007409.2:g.182658_182659del , LRG_300:g.182658_182659del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2969_2970del	ENSP00000507191.1:n.2969_2970del
ENST00000682073.1:n.1579_1580del
ENST00000682433.1:n.1918_1919del
ENST00000682453.1:c.2839_2840del	ENSP00000506943.1:p.Gln947ValfsTer3
ENST00000682477.1:c.*2265_*2266del	ENSP00000507075.1:n.*2265_*2266del
ENST00000682589.1:n.8716_8717del
ENST00000682755.1:c.2617_2618del	ENSP00000507660.1:p.Gln873ValfsTer3
ENST00000682989.1:c.2610-1762_2610-1761del	ENSP00000507786.1:n.2610-1762_2610-1761del
ENST00000683039.1:c.2839_2840del	ENSP00000508303.1:p.Gln947ValfsTer3
ENST00000683235.1:c.*254_*255del	ENSP00000507646.1:n.*254_*255del
ENST00000683535.1:n.969_970del
ENST00000684471.1:n.1252_1253del
ENST00000684584.1:c.2069-1762_2069-1761del	ENSP00000508044.1:n.2069-1762_2069-1761del
ENST00000684626.1:n.1085_1086del
ENST00000684769.1:c.1029_1030del	ENSP00000507691.1:n.1029_1030del
ENST00000259008.7:c.2839_2840del MANE Select	ENSP00000259008.2:p.Gln947ValfsTer3
ENST00000259008.6:c.2839_2840del	ENSP00000259008.2:p.Gln947ValfsTer3
ENST00000577598.5:c.2839_2840del	ENSP00000464654.1:p.Gln947ValfsTer3
NM_032043.2:c.2839_2840del , LRG_300t1:c.2839_2840del	NP_114432.2:p.Gln947ValfsTer3
XM_011525332.1:c.2899_2900del	XP_011523634.1:p.Gln967ValfsTer3
XM_011525333.1:c.2899_2900del	XP_011523635.1:p.Gln967ValfsTer3
XM_011525334.1:c.2899_2900del	XP_011523636.1:p.Gln967ValfsTer3
XM_011525335.1:c.2839_2840del	XP_011523637.1:p.Gln947ValfsTer3
XM_011525336.1:c.2779_2780del	XP_011523638.1:p.Gln927ValfsTer3
XM_011525337.1:c.2698_2699del	XP_011523639.1:p.Gln900ValfsTer3
XM_011525338.1:c.2416_2417del	XP_011523640.1:p.Gln806ValfsTer3
XM_011525332.3:c.2899_2900del	XP_011523634.1:p.Gln967ValfsTer3
XM_011525333.3:c.2899_2900del	XP_011523635.1:p.Gln967ValfsTer3
XM_011525334.2:c.2899_2900del	XP_011523636.1:p.Gln967ValfsTer3
XM_011525335.3:c.2839_2840del	XP_011523637.1:p.Gln947ValfsTer3
XM_011525336.2:c.2779_2780del	XP_011523638.1:p.Gln927ValfsTer3
XM_011525337.2:c.2698_2699del	XP_011523639.1:p.Gln900ValfsTer3
XM_011525338.2:c.2416_2417del	XP_011523640.1:p.Gln806ValfsTer3
XM_017025200.1:c.2356_2357del	XP_016880689.1:p.Gln786ValfsTer3
XM_017025201.1:c.2356_2357del	XP_016880690.1:p.Gln786ValfsTer3
XM_017025202.1:c.985_986del	XP_016880691.1:p.Gln329ValfsTer3
XM_017025203.1:c.985_986del	XP_016880692.1:p.Gln329ValfsTer3
NM_032043.3:c.2839_2840del MANE Select	NP_114432.2:p.Gln947ValfsTer3