Canonical Allele Identifier: CA2639153829

Gene: BRIP1

Linked Data

• gnomAD v4: 17-61683978-AGCTCAGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683980_61683987del , CM000679.2:g.61683980_61683987del	GRCh38
NC_000017.10:g.59761341_59761348del , CM000679.1:g.59761341_59761348del	GRCh37
NC_000017.9:g.57116123_57116130del	NCBI36
NG_007409.2:g.184574_184581del , LRG_300:g.184574_184581del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682073.1:n.1800_1807del
ENST00000682453.1:c.3060_3067del	ENSP00000506943.1:p.Pro1021ArgfsTer6
ENST00000682477.1:c.*2486_*2493del	ENSP00000507075.1:n.*2486_*2493del
ENST00000682589.1:n.8937_8944del
ENST00000682755.1:c.2838_2845del	ENSP00000507660.1:p.Pro947ArgfsTer6
ENST00000682989.1:c.*151_*158del	ENSP00000507786.1:n.*151_*158del
ENST00000683039.1:c.3060_3067del	ENSP00000508303.1:p.Pro1021ArgfsTer6
ENST00000683235.1:c.*475_*482del	ENSP00000507646.1:n.*475_*482del
ENST00000683535.1:n.1190_1197del
ENST00000684584.1:c.2223_2230del	ENSP00000508044.1:p.Pro742ArgfsTer6
ENST00000684626.1:n.1306_1313del
ENST00000684769.1:c.1250_1257del	ENSP00000507691.1:n.1250_1257del
ENST00000259008.7:c.3060_3067del MANE Select	ENSP00000259008.2:p.Pro1021ArgfsTer6
ENST00000259008.6:c.3060_3067del	ENSP00000259008.2:p.Pro1021ArgfsTer6
NM_032043.2:c.3060_3067del , LRG_300t1:c.3060_3067del	NP_114432.2:p.Pro1021ArgfsTer6
XM_011525332.1:c.3120_3127del	XP_011523634.1:p.Pro1041ArgfsTer6
XM_011525333.1:c.3120_3127del	XP_011523635.1:p.Pro1041ArgfsTer6
XM_011525334.1:c.3120_3127del	XP_011523636.1:p.Pro1041ArgfsTer6
XM_011525335.1:c.3060_3067del	XP_011523637.1:p.Pro1021ArgfsTer6
XM_011525336.1:c.3000_3007del	XP_011523638.1:p.Pro1001ArgfsTer6
XM_011525337.1:c.2919_2926del	XP_011523639.1:p.Pro974ArgfsTer6
XM_011525338.1:c.2637_2644del	XP_011523640.1:p.Pro880ArgfsTer6
XM_011525332.3:c.3120_3127del	XP_011523634.1:p.Pro1041ArgfsTer6
XM_011525333.3:c.3120_3127del	XP_011523635.1:p.Pro1041ArgfsTer6
XM_011525334.2:c.3120_3127del	XP_011523636.1:p.Pro1041ArgfsTer6
XM_011525335.3:c.3060_3067del	XP_011523637.1:p.Pro1021ArgfsTer6
XM_011525336.2:c.3000_3007del	XP_011523638.1:p.Pro1001ArgfsTer6
XM_011525337.2:c.2919_2926del	XP_011523639.1:p.Pro974ArgfsTer6
XM_011525338.2:c.2637_2644del	XP_011523640.1:p.Pro880ArgfsTer6
XM_017025200.1:c.2577_2584del	XP_016880689.1:p.Pro860ArgfsTer6
XM_017025201.1:c.2577_2584del	XP_016880690.1:p.Pro860ArgfsTer6
XM_017025202.1:c.1206_1213del	XP_016880691.1:p.Pro403ArgfsTer6
XM_017025203.1:c.1206_1213del	XP_016880692.1:p.Pro403ArgfsTer6
NM_032043.3:c.3060_3067del MANE Select	NP_114432.2:p.Pro1021ArgfsTer6