Canonical Allele Identifier: CA658798923

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 530293
• ClinVar RCV Id: RCV000636071
• dbSNP Id: rs1555573327
• MyVariant Identifiers: chr17:g.59763310del (hg19) ; chr17:g.61685949del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685950del , CM000679.2:g.61685950del	GRCh38
NC_000017.10:g.59763311del , CM000679.1:g.59763311del	GRCh37
NC_000017.9:g.57118093del	NCBI36
NG_007409.2:g.182611del , LRG_300:g.182611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682066.1:c.2922del	ENSP00000507191.1:n.2922del
ENST00000682073.1:n.1532del
ENST00000682433.1:n.1871del
ENST00000682453.1:c.2792del	ENSP00000506943.1:p.Pro931GlnfsTer?
ENST00000682477.1:c.*2218del	ENSP00000507075.1:n.*2218del
ENST00000682589.1:n.8669del
ENST00000682755.1:c.2570del	ENSP00000507660.1:p.Pro857GlnfsTer?
ENST00000682989.1:c.2610-1809del	ENSP00000507786.1:n.2610-1809del
ENST00000683039.1:c.2792del	ENSP00000508303.1:p.Pro931GlnfsTer?
ENST00000683235.1:c.*207del	ENSP00000507646.1:n.*207del
ENST00000683535.1:n.922del
ENST00000684471.1:n.1205del
ENST00000684584.1:c.2069-1809del	ENSP00000508044.1:n.2069-1809del
ENST00000684626.1:n.1038del
ENST00000684769.1:c.982del	ENSP00000507691.1:n.982del
ENST00000259008.7:c.2792del MANE Select	ENSP00000259008.2:p.Pro931GlnfsTer?
ENST00000259008.6:c.2792del	ENSP00000259008.2:p.Pro931GlnfsTer?
ENST00000577598.5:c.2792del	ENSP00000464654.1:p.Pro931GlnfsTer?
NM_032043.2:c.2792del , LRG_300t1:c.2792del	NP_114432.2:p.Pro931GlnfsTer?
XM_011525332.1:c.2852del	XP_011523634.1:p.Pro951GlnfsTer?
XM_011525333.1:c.2852del	XP_011523635.1:p.Pro951GlnfsTer?
XM_011525334.1:c.2852del	XP_011523636.1:p.Pro951GlnfsTer?
XM_011525335.1:c.2792del	XP_011523637.1:p.Pro931GlnfsTer?
XM_011525336.1:c.2732del	XP_011523638.1:p.Pro911GlnfsTer?
XM_011525337.1:c.2651del	XP_011523639.1:p.Pro884GlnfsTer?
XM_011525338.1:c.2369del	XP_011523640.1:p.Pro790GlnfsTer?
XM_011525332.3:c.2852del	XP_011523634.1:p.Pro951GlnfsTer?
XM_011525333.3:c.2852del	XP_011523635.1:p.Pro951GlnfsTer?
XM_011525334.2:c.2852del	XP_011523636.1:p.Pro951GlnfsTer?
XM_011525335.3:c.2792del	XP_011523637.1:p.Pro931GlnfsTer?
XM_011525336.2:c.2732del	XP_011523638.1:p.Pro911GlnfsTer?
XM_011525337.2:c.2651del	XP_011523639.1:p.Pro884GlnfsTer?
XM_011525338.2:c.2369del	XP_011523640.1:p.Pro790GlnfsTer?
XM_017025200.1:c.2309del	XP_016880689.1:p.Pro770GlnfsTer?
XM_017025201.1:c.2309del	XP_016880690.1:p.Pro770GlnfsTer?
XM_017025202.1:c.938del	XP_016880691.1:p.Pro313GlnfsTer?
XM_017025203.1:c.938del	XP_016880692.1:p.Pro313GlnfsTer?
NM_032043.3:c.2792del MANE Select	NP_114432.2:p.Pro931GlnfsTer?