Canonical Allele Identifier: CA2573154293
Gene: BRIP1 HGNC NCBI

Linked Data

dbSNP Id: rs2144075033

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683582_61683583insAGCTATCAGTTAG , CM000679.2:g.61683582_61683583insAGCTATCAGTTAG GRCh38
NC_000017.10:g.59760943_59760944insAGCTATCAGTTAG , CM000679.1:g.59760943_59760944insAGCTATCAGTTAG GRCh37
NC_000017.9:g.57115725_57115726insAGCTATCAGTTAG NCBI36
NG_007409.2:g.184977_184978insCTAACTGATAGCT , LRG_300:g.184977_184978insCTAACTGATAGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2203_2204insCTAACTGATAGCT
ENST00000682453.1:c.3463_3464insCTAACTGATAGCT ENSP00000506943.1:p.Gly1155AlafsTer3
ENST00000682477.1:c.*2889_*2890insCTAACTGATAGCT ENSP00000507075.1:n.*2889_*2890insCTAACTGATAGCT
ENST00000682589.1:n.9340_9341insCTAACTGATAGCT
ENST00000682755.1:c.3241_3242insCTAACTGATAGCT ENSP00000507660.1:p.Gly1081AlafsTer3
ENST00000682989.1:c.*554_*555insCTAACTGATAGCT ENSP00000507786.1:n.*554_*555insCTAACTGATAGCT
ENST00000683039.1:c.3463_3464insCTAACTGATAGCT ENSP00000508303.1:p.Gly1155AlafsTer3
ENST00000683235.1:c.*878_*879insCTAACTGATAGCT ENSP00000507646.1:n.*878_*879insCTAACTGATAGCT
ENST00000683535.1:n.1593_1594insCTAACTGATAGCT
ENST00000684584.1:c.2626_2627insCTAACTGATAGCT ENSP00000508044.1:p.Gly876AlafsTer3
ENST00000684626.1:n.1709_1710insCTAACTGATAGCT
ENST00000684769.1:c.1653_1654insCTAACTGATAGCT ENSP00000507691.1:n.1653_1654insCTAACTGATAGCT
ENST00000259008.7:c.3463_3464insCTAACTGATAGCT MANE Select ENSP00000259008.2:p.Gly1155AlafsTer3
ENST00000259008.6:c.3463_3464insCTAACTGATAGCT ENSP00000259008.2:p.Gly1155AlafsTer3
NM_032043.2:c.3463_3464insCTAACTGATAGCT , LRG_300t1:c.3463_3464insCTAACTGATAGCT NP_114432.2:p.Gly1155AlafsTer3
XM_011525332.1:c.3523_3524insCTAACTGATAGCT XP_011523634.1:p.Gly1175AlafsTer3
XM_011525333.1:c.3523_3524insCTAACTGATAGCT XP_011523635.1:p.Gly1175AlafsTer3
XM_011525334.1:c.3523_3524insCTAACTGATAGCT XP_011523636.1:p.Gly1175AlafsTer3
XM_011525335.1:c.3463_3464insCTAACTGATAGCT XP_011523637.1:p.Gly1155AlafsTer3
XM_011525336.1:c.3403_3404insCTAACTGATAGCT XP_011523638.1:p.Gly1135AlafsTer3
XM_011525337.1:c.3322_3323insCTAACTGATAGCT XP_011523639.1:p.Gly1108AlafsTer3
XM_011525338.1:c.3040_3041insCTAACTGATAGCT XP_011523640.1:p.Gly1014AlafsTer3
XM_011525332.3:c.3523_3524insCTAACTGATAGCT XP_011523634.1:p.Gly1175AlafsTer3
XM_011525333.3:c.3523_3524insCTAACTGATAGCT XP_011523635.1:p.Gly1175AlafsTer3
XM_011525334.2:c.3523_3524insCTAACTGATAGCT XP_011523636.1:p.Gly1175AlafsTer3
XM_011525335.3:c.3463_3464insCTAACTGATAGCT XP_011523637.1:p.Gly1155AlafsTer3
XM_011525336.2:c.3403_3404insCTAACTGATAGCT XP_011523638.1:p.Gly1135AlafsTer3
XM_011525337.2:c.3322_3323insCTAACTGATAGCT XP_011523639.1:p.Gly1108AlafsTer3
XM_011525338.2:c.3040_3041insCTAACTGATAGCT XP_011523640.1:p.Gly1014AlafsTer3
XM_017025200.1:c.2980_2981insCTAACTGATAGCT XP_016880689.1:p.Gly994AlafsTer3
XM_017025201.1:c.2980_2981insCTAACTGATAGCT XP_016880690.1:p.Gly994AlafsTer3
XM_017025202.1:c.1609_1610insCTAACTGATAGCT XP_016880691.1:p.Gly537AlafsTer3
XM_017025203.1:c.1609_1610insCTAACTGATAGCT XP_016880692.1:p.Gly537AlafsTer3
NM_032043.3:c.3463_3464insCTAACTGATAGCT MANE Select NP_114432.2:p.Gly1155AlafsTer3