Canonical Allele Identifier: CA2697555054

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2774981
• ClinVar RCV Id: RCV003585039

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683685_61683686del , CM000679.2:g.61683685_61683686del	GRCh38
NC_000017.10:g.59761046_59761047del , CM000679.1:g.59761046_59761047del	GRCh37
NC_000017.9:g.57115828_57115829del	NCBI36
NG_007409.2:g.184876_184877del , LRG_300:g.184876_184877del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2102_2103del
ENST00000682453.1:c.3362_3363del	ENSP00000506943.1:p.Phe1121Ter
ENST00000682477.1:c.*2788_*2789del	ENSP00000507075.1:n.*2788_*2789del
ENST00000682589.1:n.9239_9240del
ENST00000682755.1:c.3140_3141del	ENSP00000507660.1:p.Phe1047Ter
ENST00000682989.1:c.*453_*454del	ENSP00000507786.1:n.*453_*454del
ENST00000683039.1:c.3362_3363del	ENSP00000508303.1:p.Phe1121Ter
ENST00000683235.1:c.*777_*778del	ENSP00000507646.1:n.*777_*778del
ENST00000683535.1:n.1492_1493del
ENST00000684584.1:c.2525_2526del	ENSP00000508044.1:p.Phe842Ter
ENST00000684626.1:n.1608_1609del
ENST00000684769.1:c.1552_1553del	ENSP00000507691.1:n.1552_1553del
ENST00000259008.7:c.3362_3363del MANE Select	ENSP00000259008.2:p.Phe1121Ter
ENST00000259008.6:c.3362_3363del	ENSP00000259008.2:p.Phe1121Ter
NM_032043.2:c.3362_3363del , LRG_300t1:c.3362_3363del	NP_114432.2:p.Phe1121Ter
XM_011525332.1:c.3422_3423del	XP_011523634.1:p.Phe1141Ter
XM_011525333.1:c.3422_3423del	XP_011523635.1:p.Phe1141Ter
XM_011525334.1:c.3422_3423del	XP_011523636.1:p.Phe1141Ter
XM_011525335.1:c.3362_3363del	XP_011523637.1:p.Phe1121Ter
XM_011525336.1:c.3302_3303del	XP_011523638.1:p.Phe1101Ter
XM_011525337.1:c.3221_3222del	XP_011523639.1:p.Phe1074Ter
XM_011525338.1:c.2939_2940del	XP_011523640.1:p.Phe980Ter
XM_011525332.3:c.3422_3423del	XP_011523634.1:p.Phe1141Ter
XM_011525333.3:c.3422_3423del	XP_011523635.1:p.Phe1141Ter
XM_011525334.2:c.3422_3423del	XP_011523636.1:p.Phe1141Ter
XM_011525335.3:c.3362_3363del	XP_011523637.1:p.Phe1121Ter
XM_011525336.2:c.3302_3303del	XP_011523638.1:p.Phe1101Ter
XM_011525337.2:c.3221_3222del	XP_011523639.1:p.Phe1074Ter
XM_011525338.2:c.2939_2940del	XP_011523640.1:p.Phe980Ter
XM_017025200.1:c.2879_2880del	XP_016880689.1:p.Phe960Ter
XM_017025201.1:c.2879_2880del	XP_016880690.1:p.Phe960Ter
XM_017025202.1:c.1508_1509del	XP_016880691.1:p.Phe503Ter
XM_017025203.1:c.1508_1509del	XP_016880692.1:p.Phe503Ter
NM_032043.3:c.3362_3363del MANE Select	NP_114432.2:p.Phe1121Ter