Canonical Allele Identifier: CA2499224775

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1067947
• ClinVar RCV Id: RCV001379350
• dbSNP Id: rs2144077998

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683660_61683661del , CM000679.2:g.61683660_61683661del	GRCh38
NC_000017.10:g.59761021_59761022del , CM000679.1:g.59761021_59761022del	GRCh37
NC_000017.9:g.57115803_57115804del	NCBI36
NG_007409.2:g.184900_184901del , LRG_300:g.184900_184901del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2126_2127del
ENST00000682453.1:c.3386_3387del	ENSP00000506943.1:p.Ser1129TyrfsTer6
ENST00000682477.1:c.*2812_*2813del	ENSP00000507075.1:n.*2812_*2813del
ENST00000682589.1:n.9263_9264del
ENST00000682755.1:c.3164_3165del	ENSP00000507660.1:p.Ser1055TyrfsTer6
ENST00000682989.1:c.*477_*478del	ENSP00000507786.1:n.*477_*478del
ENST00000683039.1:c.3386_3387del	ENSP00000508303.1:p.Ser1129TyrfsTer6
ENST00000683235.1:c.*801_*802del	ENSP00000507646.1:n.*801_*802del
ENST00000683535.1:n.1516_1517del
ENST00000684584.1:c.2549_2550del	ENSP00000508044.1:p.Ser850TyrfsTer6
ENST00000684626.1:n.1632_1633del
ENST00000684769.1:c.1576_1577del	ENSP00000507691.1:n.1576_1577del
ENST00000259008.7:c.3386_3387del MANE Select	ENSP00000259008.2:p.Ser1129TyrfsTer6
ENST00000259008.6:c.3386_3387del	ENSP00000259008.2:p.Ser1129TyrfsTer6
NM_032043.2:c.3386_3387del , LRG_300t1:c.3386_3387del	NP_114432.2:p.Ser1129TyrfsTer6
XM_011525332.1:c.3446_3447del	XP_011523634.1:p.Ser1149TyrfsTer6
XM_011525333.1:c.3446_3447del	XP_011523635.1:p.Ser1149TyrfsTer6
XM_011525334.1:c.3446_3447del	XP_011523636.1:p.Ser1149TyrfsTer6
XM_011525335.1:c.3386_3387del	XP_011523637.1:p.Ser1129TyrfsTer6
XM_011525336.1:c.3326_3327del	XP_011523638.1:p.Ser1109TyrfsTer6
XM_011525337.1:c.3245_3246del	XP_011523639.1:p.Ser1082TyrfsTer6
XM_011525338.1:c.2963_2964del	XP_011523640.1:p.Ser988TyrfsTer6
XM_011525332.3:c.3446_3447del	XP_011523634.1:p.Ser1149TyrfsTer6
XM_011525333.3:c.3446_3447del	XP_011523635.1:p.Ser1149TyrfsTer6
XM_011525334.2:c.3446_3447del	XP_011523636.1:p.Ser1149TyrfsTer6
XM_011525335.3:c.3386_3387del	XP_011523637.1:p.Ser1129TyrfsTer6
XM_011525336.2:c.3326_3327del	XP_011523638.1:p.Ser1109TyrfsTer6
XM_011525337.2:c.3245_3246del	XP_011523639.1:p.Ser1082TyrfsTer6
XM_011525338.2:c.2963_2964del	XP_011523640.1:p.Ser988TyrfsTer6
XM_017025200.1:c.2903_2904del	XP_016880689.1:p.Ser968TyrfsTer6
XM_017025201.1:c.2903_2904del	XP_016880690.1:p.Ser968TyrfsTer6
XM_017025202.1:c.1532_1533del	XP_016880691.1:p.Ser511TyrfsTer6
XM_017025203.1:c.1532_1533del	XP_016880692.1:p.Ser511TyrfsTer6
NM_032043.3:c.3386_3387del MANE Select	NP_114432.2:p.Ser1129TyrfsTer6