Canonical Allele Identifier: CA191756

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 185373
• ClinVar RCV Id: RCV000164782 ; RCV001354834
• dbSNP Id: rs786202125
• MyVariant Identifiers: chr17:g.59938806dupA (hg19) ; chr17:g.59938805_59938806insA (hg19) ; chr17:g.61861445dupA (hg38) ; chr17:g.61861444_61861445insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61861445dup , CM000679.2:g.61861445dup	GRCh38
NC_000017.10:g.59938806dup , CM000679.1:g.59938806dup	GRCh37
NC_000017.9:g.57293588dup	NCBI36
NG_007409.2:g.7115dup , LRG_300:g.7115dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000577913.2:c.93+2dup	ENSP00000462274.2:n.93+2dup
ENST00000584322.2:c.93+2dup	ENSP00000463272.2:n.93+2dup
ENST00000682369.1:c.93+2dup	ENSP00000507450.1:n.93+2dup
ENST00000682453.1:c.93+2dup	ENSP00000506943.1:n.93+2dup
ENST00000682477.1:c.93+2dup	ENSP00000507075.1:n.93+2dup
ENST00000682589.1:n.1834+2dup
ENST00000682755.1:c.93+2dup	ENSP00000507660.1:n.93+2dup
ENST00000682989.1:c.93+2dup	ENSP00000507786.1:n.93+2dup
ENST00000683039.1:c.93+2dup	ENSP00000508303.1:n.93+2dup
ENST00000683235.1:c.93+2dup	ENSP00000507646.1:n.93+2dup
ENST00000683381.1:c.93+2dup	ENSP00000508184.1:n.93+2dup
ENST00000683672.1:c.-93+1839dup	ENSP00000506781.1:n.-93+1839dup
ENST00000259008.7:c.93+2dup MANE Select	ENSP00000259008.2:n.93+2dup
ENST00000259008.6:c.93+2dup	ENSP00000259008.2:n.93+2dup
ENST00000577598.5:c.93+2dup	ENSP00000464654.1:n.93+2dup
ENST00000577913.1:c.93+2dup	ENSP00000462274.1:n.93+2dup
NM_032043.2:c.93+2dup , LRG_300t1:c.93+2dup	NP_114432.2:n.93+2dup
XM_011525332.1:c.93+2dup	XP_011523634.1:n.93+2dup
XM_011525333.1:c.93+2dup	XP_011523635.1:n.93+2dup
XM_011525334.1:c.93+2dup	XP_011523636.1:n.93+2dup
XM_011525335.1:c.93+2dup	XP_011523637.1:n.93+2dup
XM_011525336.1:c.93+2dup	XP_011523638.1:n.93+2dup
XM_011525337.1:c.93+2dup	XP_011523639.1:n.93+2dup
XM_011525339.1:c.93+2dup	XP_011523641.1:n.93+2dup
XM_011525340.1:c.93+2dup	XP_011523642.1:n.93+2dup
XM_011525341.1:c.93+2dup	XP_011523643.1:n.93+2dup
XM_011525332.3:c.93+2dup	XP_011523634.1:n.93+2dup
XM_011525333.3:c.93+2dup	XP_011523635.1:n.93+2dup
XM_011525334.2:c.93+2dup	XP_011523636.1:n.93+2dup
XM_011525335.3:c.93+2dup	XP_011523637.1:n.93+2dup
XM_011525336.2:c.93+2dup	XP_011523638.1:n.93+2dup
XM_011525337.2:c.93+2dup	XP_011523639.1:n.93+2dup
XM_011525339.3:c.93+2dup	XP_011523641.1:n.93+2dup
XM_011525340.3:c.93+2dup	XP_011523642.1:n.93+2dup
XM_011525341.3:c.93+2dup	XP_011523643.1:n.93+2dup
NM_032043.3:c.93+2dup MANE Select	NP_114432.2:n.93+2dup