Canonical Allele Identifier: CA292268108

Gene: BRIP1

Linked Data

• dbSNP Id: rs962476994
• MyVariant Identifiers: chr17:g.59763348_59763349insA (hg19) ; chr17:g.61685987_61685988insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685987_61685988insA , CM000679.2:g.61685987_61685988insA	GRCh38
NC_000017.10:g.59763348_59763349insA , CM000679.1:g.59763348_59763349insA	GRCh37
NC_000017.9:g.57118130_57118131insA	NCBI36
NG_007409.2:g.182572_182573insT , LRG_300:g.182572_182573insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2883_2884insT	ENSP00000507191.1:n.2883_2884insT
ENST00000682073.1:n.1493_1494insT
ENST00000682433.1:n.1832_1833insT
ENST00000682453.1:c.2753_2754insT	ENSP00000506943.1:p.Ser919LeufsTer20
ENST00000682477.1:c.*2179_*2180insT	ENSP00000507075.1:n.*2179_*2180insT
ENST00000682589.1:n.8630_8631insT
ENST00000682755.1:c.2531_2532insT	ENSP00000507660.1:p.Ser845LeufsTer20
ENST00000682989.1:c.2610-1848_2610-1847insT	ENSP00000507786.1:n.2610-1848_2610-1847in...
ENST00000683039.1:c.2753_2754insT	ENSP00000508303.1:p.Ser919LeufsTer20
ENST00000683235.1:c.*168_*169insT	ENSP00000507646.1:n.*168_*169insT
ENST00000683535.1:n.883_884insT
ENST00000684471.1:n.1166_1167insT
ENST00000684584.1:c.2069-1848_2069-1847insT	ENSP00000508044.1:n.2069-1848_2069-1847in...
ENST00000684626.1:n.999_1000insT
ENST00000684769.1:c.943_944insT	ENSP00000507691.1:n.943_944insT
ENST00000259008.7:c.2753_2754insT MANE Select	ENSP00000259008.2:p.Ser919LeufsTer20
ENST00000259008.6:c.2753_2754insT	ENSP00000259008.2:p.Ser919LeufsTer20
ENST00000577598.5:c.2753_2754insT	ENSP00000464654.1:p.Ser919LeufsTer20
NM_032043.2:c.2753_2754insT , LRG_300t1:c.2753_2754insT	NP_114432.2:p.Ser919LeufsTer20
XM_011525332.1:c.2813_2814insT	XP_011523634.1:p.Ser939LeufsTer20
XM_011525333.1:c.2813_2814insT	XP_011523635.1:p.Ser939LeufsTer20
XM_011525334.1:c.2813_2814insT	XP_011523636.1:p.Ser939LeufsTer20
XM_011525335.1:c.2753_2754insT	XP_011523637.1:p.Ser919LeufsTer20
XM_011525336.1:c.2693_2694insT	XP_011523638.1:p.Ser899LeufsTer20
XM_011525337.1:c.2612_2613insT	XP_011523639.1:p.Ser872LeufsTer20
XM_011525338.1:c.2330_2331insT	XP_011523640.1:p.Ser778LeufsTer20
XM_011525332.3:c.2813_2814insT	XP_011523634.1:p.Ser939LeufsTer20
XM_011525333.3:c.2813_2814insT	XP_011523635.1:p.Ser939LeufsTer20
XM_011525334.2:c.2813_2814insT	XP_011523636.1:p.Ser939LeufsTer20
XM_011525335.3:c.2753_2754insT	XP_011523637.1:p.Ser919LeufsTer20
XM_011525336.2:c.2693_2694insT	XP_011523638.1:p.Ser899LeufsTer20
XM_011525337.2:c.2612_2613insT	XP_011523639.1:p.Ser872LeufsTer20
XM_011525338.2:c.2330_2331insT	XP_011523640.1:p.Ser778LeufsTer20
XM_017025200.1:c.2270_2271insT	XP_016880689.1:p.Ser758LeufsTer20
XM_017025201.1:c.2270_2271insT	XP_016880690.1:p.Ser758LeufsTer20
XM_017025202.1:c.899_900insT	XP_016880691.1:p.Ser301LeufsTer20
XM_017025203.1:c.899_900insT	XP_016880692.1:p.Ser301LeufsTer20
NM_032043.3:c.2753_2754insT MANE Select	NP_114432.2:p.Ser919LeufsTer20