Canonical Allele Identifier: CA627146456

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2774983
• ClinVar RCV Id: RCV003585041
• dbSNP Id: rs1252979934
• gnomAD v2: 17-59761187-TA-T
• gnomAD v4: 17-61683826-TA-T
• MyVariant Identifiers: chr17:g.59761188del (hg19) ; chr17:g.61683827del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683828del , CM000679.2:g.61683828del	GRCh38
NC_000017.10:g.59761189del , CM000679.1:g.59761189del	GRCh37
NC_000017.9:g.57115971del	NCBI36
NG_007409.2:g.184733del , LRG_300:g.184733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1959del
ENST00000682453.1:c.3219del	ENSP00000506943.1:p.Ile1074PhefsTer4
ENST00000682477.1:c.*2645del	ENSP00000507075.1:n.*2645del
ENST00000682589.1:n.9096del
ENST00000682755.1:c.2997del	ENSP00000507660.1:p.Ile1000PhefsTer4
ENST00000682989.1:c.*310del	ENSP00000507786.1:n.*310del
ENST00000683039.1:c.3219del	ENSP00000508303.1:p.Ile1074PhefsTer4
ENST00000683235.1:c.*634del	ENSP00000507646.1:n.*634del
ENST00000683535.1:n.1349del
ENST00000684584.1:c.2382del	ENSP00000508044.1:p.Ile795PhefsTer4
ENST00000684626.1:n.1465del
ENST00000684769.1:c.1409del	ENSP00000507691.1:n.1409del
ENST00000259008.7:c.3219del MANE Select	ENSP00000259008.2:p.Ile1074PhefsTer4
ENST00000259008.6:c.3219del	ENSP00000259008.2:p.Ile1074PhefsTer4
NM_032043.2:c.3219del , LRG_300t1:c.3219del	NP_114432.2:p.Ile1074PhefsTer4
XM_011525332.1:c.3279del	XP_011523634.1:p.Ile1094PhefsTer4
XM_011525333.1:c.3279del	XP_011523635.1:p.Ile1094PhefsTer4
XM_011525334.1:c.3279del	XP_011523636.1:p.Ile1094PhefsTer4
XM_011525335.1:c.3219del	XP_011523637.1:p.Ile1074PhefsTer4
XM_011525336.1:c.3159del	XP_011523638.1:p.Ile1054PhefsTer4
XM_011525337.1:c.3078del	XP_011523639.1:p.Ile1027PhefsTer4
XM_011525338.1:c.2796del	XP_011523640.1:p.Ile933PhefsTer4
XM_011525332.3:c.3279del	XP_011523634.1:p.Ile1094PhefsTer4
XM_011525333.3:c.3279del	XP_011523635.1:p.Ile1094PhefsTer4
XM_011525334.2:c.3279del	XP_011523636.1:p.Ile1094PhefsTer4
XM_011525335.3:c.3219del	XP_011523637.1:p.Ile1074PhefsTer4
XM_011525336.2:c.3159del	XP_011523638.1:p.Ile1054PhefsTer4
XM_011525337.2:c.3078del	XP_011523639.1:p.Ile1027PhefsTer4
XM_011525338.2:c.2796del	XP_011523640.1:p.Ile933PhefsTer4
XM_017025200.1:c.2736del	XP_016880689.1:p.Ile913PhefsTer4
XM_017025201.1:c.2736del	XP_016880690.1:p.Ile913PhefsTer4
XM_017025202.1:c.1365del	XP_016880691.1:p.Ile456PhefsTer4
XM_017025203.1:c.1365del	XP_016880692.1:p.Ile456PhefsTer4
NM_032043.3:c.3219del MANE Select	NP_114432.2:p.Ile1074PhefsTer4