Canonical Allele Identifier: CA658684146

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 489835
• ClinVar RCV Id: RCV000580510
• dbSNP Id: rs1555572545

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683518delinsAAAG , CM000679.2:g.61683518delinsAAAG	GRCh38
NC_000017.10:g.59760879delinsAAAG , CM000679.1:g.59760879delinsAAAG	GRCh37
NC_000017.9:g.57115661delinsAAAG	NCBI36
NG_007409.2:g.185042delinsCTTT , LRG_300:g.185042delinsCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2268delinsCTTT
ENST00000682453.1:c.3528delinsCTTT	ENSP00000506943.1:p.Ile1176_Lys1177insPhe
ENST00000682477.1:c.*2954delinsCTTT	ENSP00000507075.1:n.*2954delinsCTTT
ENST00000682589.1:n.9405delinsCTTT
ENST00000682755.1:c.3306delinsCTTT	ENSP00000507660.1:p.Ile1102_Lys1103insPhe
ENST00000682989.1:c.*619delinsCTTT	ENSP00000507786.1:n.*619delinsCTTT
ENST00000683039.1:c.3528delinsCTTT	ENSP00000508303.1:p.Ile1176_Lys1177insPhe
ENST00000683235.1:c.*943delinsCTTT	ENSP00000507646.1:n.*943delinsCTTT
ENST00000683535.1:n.1658delinsCTTT
ENST00000684584.1:c.2691delinsCTTT	ENSP00000508044.1:p.Ile897_Lys898insPhe
ENST00000684626.1:n.1774delinsCTTT
ENST00000684769.1:c.1718delinsCTTT	ENSP00000507691.1:n.1718delinsCTTT
ENST00000259008.7:c.3528delinsCTTT MANE Select	ENSP00000259008.2:p.Ile1176_Lys1177insPhe
ENST00000259008.6:c.3528delinsCTTT	ENSP00000259008.2:p.Ile1176_Lys1177insPhe
NM_032043.2:c.3528delinsCTTT , LRG_300t1:c.3528delinsCTTT	NP_114432.2:p.Ile1176_Lys1177insPhe
XM_011525332.1:c.3588delinsCTTT	XP_011523634.1:p.Ile1196_Lys1197insPhe
XM_011525333.1:c.3588delinsCTTT	XP_011523635.1:p.Ile1196_Lys1197insPhe
XM_011525334.1:c.3588delinsCTTT	XP_011523636.1:p.Ile1196_Lys1197insPhe
XM_011525335.1:c.3528delinsCTTT	XP_011523637.1:p.Ile1176_Lys1177insPhe
XM_011525336.1:c.3468delinsCTTT	XP_011523638.1:p.Ile1156_Lys1157insPhe
XM_011525337.1:c.3387delinsCTTT	XP_011523639.1:p.Ile1129_Lys1130insPhe
XM_011525338.1:c.3105delinsCTTT	XP_011523640.1:p.Ile1035_Lys1036insPhe
XM_011525332.3:c.3588delinsCTTT	XP_011523634.1:p.Ile1196_Lys1197insPhe
XM_011525333.3:c.3588delinsCTTT	XP_011523635.1:p.Ile1196_Lys1197insPhe
XM_011525334.2:c.3588delinsCTTT	XP_011523636.1:p.Ile1196_Lys1197insPhe
XM_011525335.3:c.3528delinsCTTT	XP_011523637.1:p.Ile1176_Lys1177insPhe
XM_011525336.2:c.3468delinsCTTT	XP_011523638.1:p.Ile1156_Lys1157insPhe
XM_011525337.2:c.3387delinsCTTT	XP_011523639.1:p.Ile1129_Lys1130insPhe
XM_011525338.2:c.3105delinsCTTT	XP_011523640.1:p.Ile1035_Lys1036insPhe
XM_017025200.1:c.3045delinsCTTT	XP_016880689.1:p.Ile1015_Lys1016insPhe
XM_017025201.1:c.3045delinsCTTT	XP_016880690.1:p.Ile1015_Lys1016insPhe
XM_017025202.1:c.1674delinsCTTT	XP_016880691.1:p.Ile558_Lys559insPhe
XM_017025203.1:c.1674delinsCTTT	XP_016880692.1:p.Ile558_Lys559insPhe
NM_032043.3:c.3528delinsCTTT MANE Select	NP_114432.2:p.Ile1176_Lys1177insPhe