Canonical Allele Identifier: CA2740093832

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2945161
• ClinVar RCV Id: RCV003800815

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683879del , CM000679.2:g.61683879del	GRCh38
NC_000017.10:g.59761240del , CM000679.1:g.59761240del	GRCh37
NC_000017.9:g.57116022del	NCBI36
NG_007409.2:g.184681del , LRG_300:g.184681del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1907del
ENST00000682453.1:c.3167del	ENSP00000506943.1:p.Ser1056Ter
ENST00000682477.1:c.*2593del	ENSP00000507075.1:n.*2593del
ENST00000682589.1:n.9044del
ENST00000682755.1:c.2945del	ENSP00000507660.1:p.Ser982Ter
ENST00000682989.1:c.*258del	ENSP00000507786.1:n.*258del
ENST00000683039.1:c.3167del	ENSP00000508303.1:p.Ser1056Ter
ENST00000683235.1:c.*582del	ENSP00000507646.1:n.*582del
ENST00000683535.1:n.1297del
ENST00000684584.1:c.2330del	ENSP00000508044.1:p.Ser777Ter
ENST00000684626.1:n.1413del
ENST00000684769.1:c.1357del	ENSP00000507691.1:n.1357del
ENST00000259008.7:c.3167del MANE Select	ENSP00000259008.2:p.Ser1056Ter
ENST00000259008.6:c.3167del	ENSP00000259008.2:p.Ser1056Ter
NM_032043.2:c.3167del , LRG_300t1:c.3167del	NP_114432.2:p.Ser1056Ter
XM_011525332.1:c.3227del	XP_011523634.1:p.Ser1076Ter
XM_011525333.1:c.3227del	XP_011523635.1:p.Ser1076Ter
XM_011525334.1:c.3227del	XP_011523636.1:p.Ser1076Ter
XM_011525335.1:c.3167del	XP_011523637.1:p.Ser1056Ter
XM_011525336.1:c.3107del	XP_011523638.1:p.Ser1036Ter
XM_011525337.1:c.3026del	XP_011523639.1:p.Ser1009Ter
XM_011525338.1:c.2744del	XP_011523640.1:p.Ser915Ter
XM_011525332.3:c.3227del	XP_011523634.1:p.Ser1076Ter
XM_011525333.3:c.3227del	XP_011523635.1:p.Ser1076Ter
XM_011525334.2:c.3227del	XP_011523636.1:p.Ser1076Ter
XM_011525335.3:c.3167del	XP_011523637.1:p.Ser1056Ter
XM_011525336.2:c.3107del	XP_011523638.1:p.Ser1036Ter
XM_011525337.2:c.3026del	XP_011523639.1:p.Ser1009Ter
XM_011525338.2:c.2744del	XP_011523640.1:p.Ser915Ter
XM_017025200.1:c.2684del	XP_016880689.1:p.Ser895Ter
XM_017025201.1:c.2684del	XP_016880690.1:p.Ser895Ter
XM_017025202.1:c.1313del	XP_016880691.1:p.Ser438Ter
XM_017025203.1:c.1313del	XP_016880692.1:p.Ser438Ter
NM_032043.3:c.3167del MANE Select	NP_114432.2:p.Ser1056Ter