Canonical Allele Identifier: CA16620525

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 419076
• ClinVar RCV Id: RCV000487110 ; RCV001215660 ; RCV001271071 ; RCV001188865 ; RCV003335350
• dbSNP Id: rs1064793626
• MyVariant Identifiers: chr17:g.59857668del (hg19) ; chr17:g.61780307del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61780307del , CM000679.2:g.61780307del	GRCh38
NC_000017.10:g.59857668del , CM000679.1:g.59857668del	GRCh37
NC_000017.9:g.57212450del	NCBI36
NG_007409.2:g.88253del , LRG_300:g.88253del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579028.2:c.1471del	ENSP00000463827.2:n.1471del
ENST00000584322.2:c.1889del	ENSP00000463272.2:p.Thr630AsnfsTer?
ENST00000682066.1:c.1382del	ENSP00000507191.1:p.Thr461AsnfsTer?
ENST00000682073.1:n.629del
ENST00000682453.1:c.1889del	ENSP00000506943.1:p.Thr630AsnfsTer?
ENST00000682477.1:c.*1315del	ENSP00000507075.1:n.*1315del
ENST00000682589.1:n.4068del
ENST00000682611.1:c.1382del	ENSP00000508326.1:p.Thr461AsnfsTer?
ENST00000682755.1:c.1667del	ENSP00000507660.1:p.Thr556AsnfsTer?
ENST00000682989.1:c.1889del	ENSP00000507786.1:p.Thr630AsnfsTer?
ENST00000683039.1:c.1889del	ENSP00000508303.1:p.Thr630AsnfsTer?
ENST00000683235.1:c.1889del	ENSP00000507646.1:p.Thr630AsnfsTer?
ENST00000683381.1:c.1889del	ENSP00000508184.1:p.Thr630AsnfsTer17
ENST00000684471.1:n.362del
ENST00000684584.1:c.1382del	ENSP00000508044.1:p.Thr461AsnfsTer?
ENST00000259008.7:c.1889del MANE Select	ENSP00000259008.2:p.Thr630AsnfsTer?
ENST00000259008.6:c.1889del	ENSP00000259008.2:p.Thr630AsnfsTer?
ENST00000577598.5:c.1889del	ENSP00000464654.1:p.Thr630AsnfsTer?
ENST00000579028.1:c.582del
NM_032043.2:c.1889del , LRG_300t1:c.1889del	NP_114432.2:p.Thr630AsnfsTer?
XM_011525332.1:c.1889del	XP_011523634.1:p.Thr630AsnfsTer17
XM_011525333.1:c.1889del	XP_011523635.1:p.Thr630AsnfsTer17
XM_011525334.1:c.1889del	XP_011523636.1:p.Thr630AsnfsTer17
XM_011525335.1:c.1889del	XP_011523637.1:p.Thr630AsnfsTer17
XM_011525336.1:c.1889del	XP_011523638.1:p.Thr630AsnfsTer?
XM_011525337.1:c.1794+533del	XP_011523639.1:n.1794+533del
XM_011525338.1:c.1406del	XP_011523640.1:p.Thr469AsnfsTer17
XM_011525339.1:c.1889del	XP_011523641.1:p.Thr630AsnfsTer17
XM_011525340.1:c.1889del	XP_011523642.1:p.Thr630AsnfsTer17
XM_011525341.1:c.1889del	XP_011523643.1:p.Thr630AsnfsTer?
XM_011525332.3:c.1889del	XP_011523634.1:p.Thr630AsnfsTer17
XM_011525333.3:c.1889del	XP_011523635.1:p.Thr630AsnfsTer17
XM_011525334.2:c.1889del	XP_011523636.1:p.Thr630AsnfsTer17
XM_011525335.3:c.1889del	XP_011523637.1:p.Thr630AsnfsTer17
XM_011525336.2:c.1889del	XP_011523638.1:p.Thr630AsnfsTer?
XM_011525337.2:c.1794+533del	XP_011523639.1:n.1794+533del
XM_011525338.2:c.1406del	XP_011523640.1:p.Thr469AsnfsTer17
XM_011525339.3:c.1889del	XP_011523641.1:p.Thr630AsnfsTer17
XM_011525340.3:c.1889del	XP_011523642.1:p.Thr630AsnfsTer17
XM_011525341.3:c.1889del	XP_011523643.1:p.Thr630AsnfsTer?
XM_017025200.1:c.1406del	XP_016880689.1:p.Thr469AsnfsTer?
XM_017025201.1:c.1346del	XP_016880690.1:p.Thr449AsnfsTer17
XM_017025203.1:c.-72del	XP_016880692.1:n.-72del
NM_032043.3:c.1889del MANE Select	NP_114432.2:p.Thr630AsnfsTer?