Canonical Allele Identifier: CA658798920

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 530351
• ClinVar RCV Id: RCV000636176 ; RCV000777424
• dbSNP Id: rs1555572410
• MyVariant Identifiers: chr17:g.59760657_59760660del (hg19) ; chr17:g.61683296_61683299del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683299_61683302del , CM000679.2:g.61683299_61683302del	GRCh38
NC_000017.10:g.59760660_59760663del , CM000679.1:g.59760660_59760663del	GRCh37
NC_000017.9:g.57115442_57115445del	NCBI36
NG_007409.2:g.185261_185264del , LRG_300:g.185261_185264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2487_2490del
ENST00000682453.1:c.3747_3750del	ENSP00000506943.1:p.Lys1249AsnfsTer4
ENST00000682477.1:c.*3173_*3176del	ENSP00000507075.1:n.*3173_*3176del
ENST00000682589.1:n.9624_9627del
ENST00000682755.1:c.3525_3528del	ENSP00000507660.1:p.Lys1175AsnfsTer4
ENST00000682989.1:c.*838_*841del	ENSP00000507786.1:n.*838_*841del
ENST00000683039.1:c.3747_3750del	ENSP00000508303.1:p.Lys1249AsnfsTer4
ENST00000683235.1:c.*1162_*1165del	ENSP00000507646.1:n.*1162_*1165del
ENST00000683535.1:n.1877_1880del
ENST00000684584.1:c.2910_2913del	ENSP00000508044.1:p.Lys970AsnfsTer4
ENST00000684626.1:n.1993_1996del
ENST00000684769.1:c.1937_1940del	ENSP00000507691.1:n.1937_1940del
ENST00000259008.7:c.3747_3750del MANE Select	ENSP00000259008.2:p.Lys1249AsnfsTer4
ENST00000259008.6:c.3747_3750del	ENSP00000259008.2:p.Lys1249AsnfsTer4
NM_032043.2:c.3747_3750del , LRG_300t1:c.3747_3750del	NP_114432.2:p.Lys1249AsnfsTer4
XM_011525332.1:c.3807_3810del	XP_011523634.1:p.Lys1269AsnfsTer4
XM_011525333.1:c.3807_3810del	XP_011523635.1:p.Lys1269AsnfsTer4
XM_011525334.1:c.3807_3810del	XP_011523636.1:p.Lys1269AsnfsTer4
XM_011525335.1:c.3747_3750del	XP_011523637.1:p.Lys1249AsnfsTer4
XM_011525336.1:c.3687_3690del	XP_011523638.1:p.Lys1229AsnfsTer4
XM_011525337.1:c.3606_3609del	XP_011523639.1:p.Lys1202AsnfsTer4
XM_011525338.1:c.3324_3327del	XP_011523640.1:p.Lys1108AsnfsTer4
XM_011525332.3:c.3807_3810del	XP_011523634.1:p.Lys1269AsnfsTer4
XM_011525333.3:c.3807_3810del	XP_011523635.1:p.Lys1269AsnfsTer4
XM_011525334.2:c.3807_3810del	XP_011523636.1:p.Lys1269AsnfsTer4
XM_011525335.3:c.3747_3750del	XP_011523637.1:p.Lys1249AsnfsTer4
XM_011525336.2:c.3687_3690del	XP_011523638.1:p.Lys1229AsnfsTer4
XM_011525337.2:c.3606_3609del	XP_011523639.1:p.Lys1202AsnfsTer4
XM_011525338.2:c.3324_3327del	XP_011523640.1:p.Lys1108AsnfsTer4
XM_017025200.1:c.3264_3267del	XP_016880689.1:p.Lys1088AsnfsTer4
XM_017025201.1:c.3264_3267del	XP_016880690.1:p.Lys1088AsnfsTer4
XM_017025202.1:c.1893_1896del	XP_016880691.1:p.Lys631AsnfsTer4
XM_017025203.1:c.1893_1896del	XP_016880692.1:p.Lys631AsnfsTer4
NM_032043.3:c.3747_3750del MANE Select	NP_114432.2:p.Lys1249AsnfsTer4