Canonical Allele Identifier: CA400479361
Gene: BRIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.61683851del (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683851del , CM000679.2:g.61683851del GRCh38
NC_000017.10:g.59761212del , CM000679.1:g.59761212del GRCh37
NC_000017.9:g.57115994del NCBI36
NG_007409.2:g.184709del , LRG_300:g.184709del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1935del
ENST00000682453.1:c.3195del ENSP00000506943.1:p.Ser1066HisfsTer12
ENST00000682477.1:c.*2621del ENSP00000507075.1:n.*2621del
ENST00000682589.1:n.9072del
ENST00000682755.1:c.2973del ENSP00000507660.1:p.Ser992HisfsTer12
ENST00000682989.1:c.*286del ENSP00000507786.1:n.*286del
ENST00000683039.1:c.3195del ENSP00000508303.1:p.Ser1066HisfsTer12
ENST00000683235.1:c.*610del ENSP00000507646.1:n.*610del
ENST00000683535.1:n.1325del
ENST00000684584.1:c.2358del ENSP00000508044.1:p.Ser787HisfsTer12
ENST00000684626.1:n.1441del
ENST00000684769.1:c.1385del ENSP00000507691.1:n.1385del
ENST00000259008.7:c.3195del MANE Select ENSP00000259008.2:p.Ser1066HisfsTer12
ENST00000259008.6:c.3195del ENSP00000259008.2:p.Ser1066HisfsTer12
NM_032043.2:c.3195del , LRG_300t1:c.3195del NP_114432.2:p.Ser1066HisfsTer12
XM_011525332.1:c.3255del XP_011523634.1:p.Ser1086HisfsTer12
XM_011525333.1:c.3255del XP_011523635.1:p.Ser1086HisfsTer12
XM_011525334.1:c.3255del XP_011523636.1:p.Ser1086HisfsTer12
XM_011525335.1:c.3195del XP_011523637.1:p.Ser1066HisfsTer12
XM_011525336.1:c.3135del XP_011523638.1:p.Ser1046HisfsTer12
XM_011525337.1:c.3054del XP_011523639.1:p.Ser1019HisfsTer12
XM_011525338.1:c.2772del XP_011523640.1:p.Ser925HisfsTer12
XM_011525332.3:c.3255del XP_011523634.1:p.Ser1086HisfsTer12
XM_011525333.3:c.3255del XP_011523635.1:p.Ser1086HisfsTer12
XM_011525334.2:c.3255del XP_011523636.1:p.Ser1086HisfsTer12
XM_011525335.3:c.3195del XP_011523637.1:p.Ser1066HisfsTer12
XM_011525336.2:c.3135del XP_011523638.1:p.Ser1046HisfsTer12
XM_011525337.2:c.3054del XP_011523639.1:p.Ser1019HisfsTer12
XM_011525338.2:c.2772del XP_011523640.1:p.Ser925HisfsTer12
XM_017025200.1:c.2712del XP_016880689.1:p.Ser905HisfsTer12
XM_017025201.1:c.2712del XP_016880690.1:p.Ser905HisfsTer12
XM_017025202.1:c.1341del XP_016880691.1:p.Ser448HisfsTer12
XM_017025203.1:c.1341del XP_016880692.1:p.Ser448HisfsTer12
NM_032043.3:c.3195del MANE Select NP_114432.2:p.Ser1066HisfsTer12