Canonical Allele Identifier: CA1139665743

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 955824
• ClinVar RCV Id: RCV001228531
• dbSNP Id: rs2061309076

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683659_61683660insAA , CM000679.2:g.61683659_61683660insAA	GRCh38
NC_000017.10:g.59761020_59761021insAA , CM000679.1:g.59761020_59761021insAA	GRCh37
NC_000017.9:g.57115802_57115803insAA	NCBI36
NG_007409.2:g.184901_184902insTT , LRG_300:g.184901_184902insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2127_2128insTT
ENST00000682453.1:c.3387_3388insTT	ENSP00000506943.1:p.Ile1130LeufsTer21
ENST00000682477.1:c.*2813_*2814insTT	ENSP00000507075.1:n.*2813_*2814insTT
ENST00000682589.1:n.9264_9265insTT
ENST00000682755.1:c.3165_3166insTT	ENSP00000507660.1:p.Ile1056LeufsTer21
ENST00000682989.1:c.*478_*479insTT	ENSP00000507786.1:n.*478_*479insTT
ENST00000683039.1:c.3387_3388insTT	ENSP00000508303.1:p.Ile1130LeufsTer21
ENST00000683235.1:c.*802_*803insTT	ENSP00000507646.1:n.*802_*803insTT
ENST00000683535.1:n.1517_1518insTT
ENST00000684584.1:c.2550_2551insTT	ENSP00000508044.1:p.Ile851LeufsTer21
ENST00000684626.1:n.1633_1634insTT
ENST00000684769.1:c.1577_1578insTT	ENSP00000507691.1:n.1577_1578insTT
ENST00000259008.7:c.3387_3388insTT MANE Select	ENSP00000259008.2:p.Ile1130LeufsTer21
ENST00000259008.6:c.3387_3388insTT	ENSP00000259008.2:p.Ile1130LeufsTer21
NM_032043.2:c.3387_3388insTT , LRG_300t1:c.3387_3388insTT	NP_114432.2:p.Ile1130LeufsTer21
XM_011525332.1:c.3447_3448insTT	XP_011523634.1:p.Ile1150LeufsTer21
XM_011525333.1:c.3447_3448insTT	XP_011523635.1:p.Ile1150LeufsTer21
XM_011525334.1:c.3447_3448insTT	XP_011523636.1:p.Ile1150LeufsTer21
XM_011525335.1:c.3387_3388insTT	XP_011523637.1:p.Ile1130LeufsTer21
XM_011525336.1:c.3327_3328insTT	XP_011523638.1:p.Ile1110LeufsTer21
XM_011525337.1:c.3246_3247insTT	XP_011523639.1:p.Ile1083LeufsTer21
XM_011525338.1:c.2964_2965insTT	XP_011523640.1:p.Ile989LeufsTer21
XM_011525332.3:c.3447_3448insTT	XP_011523634.1:p.Ile1150LeufsTer21
XM_011525333.3:c.3447_3448insTT	XP_011523635.1:p.Ile1150LeufsTer21
XM_011525334.2:c.3447_3448insTT	XP_011523636.1:p.Ile1150LeufsTer21
XM_011525335.3:c.3387_3388insTT	XP_011523637.1:p.Ile1130LeufsTer21
XM_011525336.2:c.3327_3328insTT	XP_011523638.1:p.Ile1110LeufsTer21
XM_011525337.2:c.3246_3247insTT	XP_011523639.1:p.Ile1083LeufsTer21
XM_011525338.2:c.2964_2965insTT	XP_011523640.1:p.Ile989LeufsTer21
XM_017025200.1:c.2904_2905insTT	XP_016880689.1:p.Ile969LeufsTer21
XM_017025201.1:c.2904_2905insTT	XP_016880690.1:p.Ile969LeufsTer21
XM_017025202.1:c.1533_1534insTT	XP_016880691.1:p.Ile512LeufsTer21
XM_017025203.1:c.1533_1534insTT	XP_016880692.1:p.Ile512LeufsTer21
NM_032043.3:c.3387_3388insTT MANE Select	NP_114432.2:p.Ile1130LeufsTer21