Canonical Allele Identifier: CA2733822876
Gene: BRIP1 HGNC NCBI

Linked Data

dbSNP Id: rs2144082875

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683792dup , CM000679.2:g.61683792dup GRCh38
NC_000017.10:g.59761153dup , CM000679.1:g.59761153dup GRCh37
NC_000017.9:g.57115935dup NCBI36
NG_007409.2:g.184768dup , LRG_300:g.184768dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.1994dup
ENST00000682453.1:c.3254dup ENSP00000506943.1:p.Asn1087LysfsTer4
ENST00000682477.1:c.*2680dup ENSP00000507075.1:n.*2680dup
ENST00000682589.1:n.9131dup
ENST00000682755.1:c.3032dup ENSP00000507660.1:p.Asn1013LysfsTer4
ENST00000682989.1:c.*345dup ENSP00000507786.1:n.*345dup
ENST00000683039.1:c.3254dup ENSP00000508303.1:p.Asn1087LysfsTer4
ENST00000683235.1:c.*669dup ENSP00000507646.1:n.*669dup
ENST00000683535.1:n.1384dup
ENST00000684584.1:c.2417dup ENSP00000508044.1:p.Asn808LysfsTer4
ENST00000684626.1:n.1500dup
ENST00000684769.1:c.1444dup ENSP00000507691.1:n.1444dup
ENST00000259008.7:c.3254dup MANE Select ENSP00000259008.2:p.Asn1087LysfsTer4
ENST00000259008.6:c.3254dup ENSP00000259008.2:p.Asn1087LysfsTer4
NM_032043.2:c.3254dup , LRG_300t1:c.3254dup NP_114432.2:p.Asn1087LysfsTer4
XM_011525332.1:c.3314dup XP_011523634.1:p.Asn1107LysfsTer4
XM_011525333.1:c.3314dup XP_011523635.1:p.Asn1107LysfsTer4
XM_011525334.1:c.3314dup XP_011523636.1:p.Asn1107LysfsTer4
XM_011525335.1:c.3254dup XP_011523637.1:p.Asn1087LysfsTer4
XM_011525336.1:c.3194dup XP_011523638.1:p.Asn1067LysfsTer4
XM_011525337.1:c.3113dup XP_011523639.1:p.Asn1040LysfsTer4
XM_011525338.1:c.2831dup XP_011523640.1:p.Asn946LysfsTer4
XM_011525332.3:c.3314dup XP_011523634.1:p.Asn1107LysfsTer4
XM_011525333.3:c.3314dup XP_011523635.1:p.Asn1107LysfsTer4
XM_011525334.2:c.3314dup XP_011523636.1:p.Asn1107LysfsTer4
XM_011525335.3:c.3254dup XP_011523637.1:p.Asn1087LysfsTer4
XM_011525336.2:c.3194dup XP_011523638.1:p.Asn1067LysfsTer4
XM_011525337.2:c.3113dup XP_011523639.1:p.Asn1040LysfsTer4
XM_011525338.2:c.2831dup XP_011523640.1:p.Asn946LysfsTer4
XM_017025200.1:c.2771dup XP_016880689.1:p.Asn926LysfsTer4
XM_017025201.1:c.2771dup XP_016880690.1:p.Asn926LysfsTer4
XM_017025202.1:c.1400dup XP_016880691.1:p.Asn469LysfsTer4
XM_017025203.1:c.1400dup XP_016880692.1:p.Asn469LysfsTer4
NM_032043.3:c.3254dup MANE Select NP_114432.2:p.Asn1087LysfsTer4