Canonical Allele Identifier: CA658824412

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 548828
• ClinVar RCV Id: RCV000662926 ; RCV001177936 ; RCV003316789
• dbSNP Id: rs1555590388
• MyVariant Identifiers: chr17:g.59820412dup (hg19) ; chr17:g.61743051dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61743052dup , CM000679.2:g.61743052dup	GRCh38
NC_000017.10:g.59820413dup , CM000679.1:g.59820413dup	GRCh37
NC_000017.9:g.57175195dup	NCBI36
NG_007409.2:g.125509dup , LRG_300:g.125509dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584322.2:c.2341dup	ENSP00000463272.2:p.Thr781AsnfsTer20
ENST00000682066.1:c.2471dup	ENSP00000507191.1:n.2471dup
ENST00000682073.1:n.1081dup
ENST00000682433.1:n.1420dup
ENST00000682453.1:c.2341dup	ENSP00000506943.1:p.Thr781AsnfsTer15
ENST00000682477.1:c.*1767dup	ENSP00000507075.1:n.*1767dup
ENST00000682589.1:n.8218dup
ENST00000682755.1:c.2119dup	ENSP00000507660.1:p.Thr707AsnfsTer15
ENST00000682989.1:c.2341dup	ENSP00000507786.1:p.Thr781AsnfsTer15
ENST00000683039.1:c.2341dup	ENSP00000508303.1:p.Thr781AsnfsTer15
ENST00000683235.1:c.2341dup	ENSP00000507646.1:p.Thr781AsnfsTer15
ENST00000683381.1:c.2401dup	ENSP00000508184.1:p.Thr801AsnfsTer20
ENST00000683535.1:n.471dup
ENST00000684471.1:n.754dup
ENST00000684584.1:c.1834dup	ENSP00000508044.1:p.Thr612AsnfsTer15
ENST00000684769.1:c.406dup	ENSP00000507691.1:p.Thr136AsnfsTer15
ENST00000259008.7:c.2341dup MANE Select	ENSP00000259008.2:p.Thr781AsnfsTer15
ENST00000259008.6:c.2341dup	ENSP00000259008.2:p.Thr781AsnfsTer15
ENST00000577598.5:c.2341dup	ENSP00000464654.1:p.Thr781AsnfsTer15
ENST00000584322.1:c.324dup
NM_032043.2:c.2341dup , LRG_300t1:c.2341dup	NP_114432.2:p.Thr781AsnfsTer15
XM_011525332.1:c.2401dup	XP_011523634.1:p.Thr801AsnfsTer15
XM_011525333.1:c.2401dup	XP_011523635.1:p.Thr801AsnfsTer15
XM_011525334.1:c.2401dup	XP_011523636.1:p.Thr801AsnfsTer15
XM_011525335.1:c.2341dup	XP_011523637.1:p.Thr781AsnfsTer15
XM_011525336.1:c.2281dup	XP_011523638.1:p.Thr761AsnfsTer15
XM_011525337.1:c.2200dup	XP_011523639.1:p.Thr734AsnfsTer15
XM_011525338.1:c.1918dup	XP_011523640.1:p.Thr640AsnfsTer15
XM_011525339.1:c.2401dup	XP_011523641.1:p.Thr801AsnfsTer20
XM_011525340.1:c.2401dup	XP_011523642.1:p.Thr801AsnfsTer15
XR_934894.1:n.524-1129dup
XM_011525332.3:c.2401dup	XP_011523634.1:p.Thr801AsnfsTer15
XM_011525333.3:c.2401dup	XP_011523635.1:p.Thr801AsnfsTer15
XM_011525334.2:c.2401dup	XP_011523636.1:p.Thr801AsnfsTer15
XM_011525335.3:c.2341dup	XP_011523637.1:p.Thr781AsnfsTer15
XM_011525336.2:c.2281dup	XP_011523638.1:p.Thr761AsnfsTer15
XM_011525337.2:c.2200dup	XP_011523639.1:p.Thr734AsnfsTer15
XM_011525338.2:c.1918dup	XP_011523640.1:p.Thr640AsnfsTer15
XM_011525339.3:c.2401dup	XP_011523641.1:p.Thr801AsnfsTer20
XM_011525340.3:c.2401dup	XP_011523642.1:p.Thr801AsnfsTer15
XM_017025200.1:c.1858dup	XP_016880689.1:p.Thr620AsnfsTer15
XM_017025201.1:c.1858dup	XP_016880690.1:p.Thr620AsnfsTer15
XM_017025202.1:c.487dup	XP_016880691.1:p.Thr163AsnfsTer15
XM_017025203.1:c.487dup	XP_016880692.1:p.Thr163AsnfsTer15
NM_032043.3:c.2341dup MANE Select	NP_114432.2:p.Thr781AsnfsTer15