Canonical Allele Identifier: CA915950687

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 823225
• ClinVar RCV Id: RCV001019289 ; RCV001070427 ; RCV003473586 ; RCV003987763
• dbSNP Id: rs1603275367

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683811_61683830dup , CM000679.2:g.61683811_61683830dup	GRCh38
NC_000017.10:g.59761172_59761191dup , CM000679.1:g.59761172_59761191dup	GRCh37
NC_000017.9:g.57115954_57115973dup	NCBI36
NG_007409.2:g.184730_184749dup , LRG_300:g.184730_184749dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1956_1975dup
ENST00000682453.1:c.3216_3235dup	ENSP00000506943.1:p.Ile1079ThrfsTer6
ENST00000682477.1:c.*2642_*2661dup	ENSP00000507075.1:n.*2642_*2661dup
ENST00000682589.1:n.9093_9112dup
ENST00000682755.1:c.2994_3013dup	ENSP00000507660.1:p.Ile1005ThrfsTer6
ENST00000682989.1:c.*307_*326dup	ENSP00000507786.1:n.*307_*326dup
ENST00000683039.1:c.3216_3235dup	ENSP00000508303.1:p.Ile1079ThrfsTer6
ENST00000683235.1:c.*631_*650dup	ENSP00000507646.1:n.*631_*650dup
ENST00000683535.1:n.1346_1365dup
ENST00000684584.1:c.2379_2398dup	ENSP00000508044.1:p.Ile800ThrfsTer6
ENST00000684626.1:n.1462_1481dup
ENST00000684769.1:c.1406_1425dup	ENSP00000507691.1:n.1406_1425dup
ENST00000259008.7:c.3216_3235dup MANE Select	ENSP00000259008.2:p.Ile1079ThrfsTer6
ENST00000259008.6:c.3216_3235dup	ENSP00000259008.2:p.Ile1079ThrfsTer6
NM_032043.2:c.3216_3235dup , LRG_300t1:c.3216_3235dup	NP_114432.2:p.Ile1079ThrfsTer6
XM_011525332.1:c.3276_3295dup	XP_011523634.1:p.Ile1099ThrfsTer6
XM_011525333.1:c.3276_3295dup	XP_011523635.1:p.Ile1099ThrfsTer6
XM_011525334.1:c.3276_3295dup	XP_011523636.1:p.Ile1099ThrfsTer6
XM_011525335.1:c.3216_3235dup	XP_011523637.1:p.Ile1079ThrfsTer6
XM_011525336.1:c.3156_3175dup	XP_011523638.1:p.Ile1059ThrfsTer6
XM_011525337.1:c.3075_3094dup	XP_011523639.1:p.Ile1032ThrfsTer6
XM_011525338.1:c.2793_2812dup	XP_011523640.1:p.Ile938ThrfsTer6
XM_011525332.3:c.3276_3295dup	XP_011523634.1:p.Ile1099ThrfsTer6
XM_011525333.3:c.3276_3295dup	XP_011523635.1:p.Ile1099ThrfsTer6
XM_011525334.2:c.3276_3295dup	XP_011523636.1:p.Ile1099ThrfsTer6
XM_011525335.3:c.3216_3235dup	XP_011523637.1:p.Ile1079ThrfsTer6
XM_011525336.2:c.3156_3175dup	XP_011523638.1:p.Ile1059ThrfsTer6
XM_011525337.2:c.3075_3094dup	XP_011523639.1:p.Ile1032ThrfsTer6
XM_011525338.2:c.2793_2812dup	XP_011523640.1:p.Ile938ThrfsTer6
XM_017025200.1:c.2733_2752dup	XP_016880689.1:p.Ile918ThrfsTer6
XM_017025201.1:c.2733_2752dup	XP_016880690.1:p.Ile918ThrfsTer6
XM_017025202.1:c.1362_1381dup	XP_016880691.1:p.Ile461ThrfsTer6
XM_017025203.1:c.1362_1381dup	XP_016880692.1:p.Ile461ThrfsTer6
NM_032043.3:c.3216_3235dup MANE Select	NP_114432.2:p.Ile1079ThrfsTer6