Canonical Allele Identifier: CA2740093831

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2949408
• ClinVar RCV Id: RCV003804574

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683721_61683722insA , CM000679.2:g.61683721_61683722insA	GRCh38
NC_000017.10:g.59761082_59761083insA , CM000679.1:g.59761082_59761083insA	GRCh37
NC_000017.9:g.57115864_57115865insA	NCBI36
NG_007409.2:g.184838_184839insT , LRG_300:g.184838_184839insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2064_2065insT
ENST00000682453.1:c.3324_3325insT	ENSP00000506943.1:p.Ser1109Ter
ENST00000682477.1:c.*2750_*2751insT	ENSP00000507075.1:n.*2750_*2751insT
ENST00000682589.1:n.9201_9202insT
ENST00000682755.1:c.3102_3103insT	ENSP00000507660.1:p.Ser1035Ter
ENST00000682989.1:c.*415_*416insT	ENSP00000507786.1:n.*415_*416insT
ENST00000683039.1:c.3324_3325insT	ENSP00000508303.1:p.Ser1109Ter
ENST00000683235.1:c.*739_*740insT	ENSP00000507646.1:n.*739_*740insT
ENST00000683535.1:n.1454_1455insT
ENST00000684584.1:c.2487_2488insT	ENSP00000508044.1:p.Ser830Ter
ENST00000684626.1:n.1570_1571insT
ENST00000684769.1:c.1514_1515insT	ENSP00000507691.1:n.1514_1515insT
ENST00000259008.7:c.3324_3325insT MANE Select	ENSP00000259008.2:p.Ser1109Ter
ENST00000259008.6:c.3324_3325insT	ENSP00000259008.2:p.Ser1109Ter
NM_032043.2:c.3324_3325insT , LRG_300t1:c.3324_3325insT	NP_114432.2:p.Ser1109Ter
XM_011525332.1:c.3384_3385insT	XP_011523634.1:p.Ser1129Ter
XM_011525333.1:c.3384_3385insT	XP_011523635.1:p.Ser1129Ter
XM_011525334.1:c.3384_3385insT	XP_011523636.1:p.Ser1129Ter
XM_011525335.1:c.3324_3325insT	XP_011523637.1:p.Ser1109Ter
XM_011525336.1:c.3264_3265insT	XP_011523638.1:p.Ser1089Ter
XM_011525337.1:c.3183_3184insT	XP_011523639.1:p.Ser1062Ter
XM_011525338.1:c.2901_2902insT	XP_011523640.1:p.Ser968Ter
XM_011525332.3:c.3384_3385insT	XP_011523634.1:p.Ser1129Ter
XM_011525333.3:c.3384_3385insT	XP_011523635.1:p.Ser1129Ter
XM_011525334.2:c.3384_3385insT	XP_011523636.1:p.Ser1129Ter
XM_011525335.3:c.3324_3325insT	XP_011523637.1:p.Ser1109Ter
XM_011525336.2:c.3264_3265insT	XP_011523638.1:p.Ser1089Ter
XM_011525337.2:c.3183_3184insT	XP_011523639.1:p.Ser1062Ter
XM_011525338.2:c.2901_2902insT	XP_011523640.1:p.Ser968Ter
XM_017025200.1:c.2841_2842insT	XP_016880689.1:p.Ser948Ter
XM_017025201.1:c.2841_2842insT	XP_016880690.1:p.Ser948Ter
XM_017025202.1:c.1470_1471insT	XP_016880691.1:p.Ser491Ter
XM_017025203.1:c.1470_1471insT	XP_016880692.1:p.Ser491Ter
NM_032043.3:c.3324_3325insT MANE Select	NP_114432.2:p.Ser1109Ter