Canonical Allele Identifier: CA334785

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 188402
• ClinVar RCV Id: RCV000168472 ; RCV000485677 ; RCV001020125 ; RCV001355547 ; RCV003321537 ; RCV003491923 ; RCV003483553
• dbSNP Id: rs745344948
• ExAC: 17:59761030 TCTG / T
• gnomAD v2: 17-59761030-TCTG-T
• gnomAD v3: 17-61683669-TCTG-T
• gnomAD v4: 17-61683669-TCTG-T
• MyVariant Identifiers: chr17:g.59761031_59761033del (hg19) ; chr17:g.61683670_61683672del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683672_61683674del , CM000679.2:g.61683672_61683674del	GRCh38
NC_000017.10:g.59761033_59761035del , CM000679.1:g.59761033_59761035del	GRCh37
NC_000017.9:g.57115815_57115817del	NCBI36
NG_007409.2:g.184888_184890del , LRG_300:g.184888_184890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2114_2116del
ENST00000682453.1:c.3374_3376del	ENSP00000506943.1:p.Ala1125del
ENST00000682477.1:c.*2800_*2802del	ENSP00000507075.1:n.*2800_*2802del
ENST00000682589.1:n.9251_9253del
ENST00000682755.1:c.3152_3154del	ENSP00000507660.1:p.Ala1051del
ENST00000682989.1:c.*465_*467del	ENSP00000507786.1:n.*465_*467del
ENST00000683039.1:c.3374_3376del	ENSP00000508303.1:p.Ala1125del
ENST00000683235.1:c.*789_*791del	ENSP00000507646.1:n.*789_*791del
ENST00000683535.1:n.1504_1506del
ENST00000684584.1:c.2537_2539del	ENSP00000508044.1:p.Ala846del
ENST00000684626.1:n.1620_1622del
ENST00000684769.1:c.1564_1566del	ENSP00000507691.1:n.1564_1566del
ENST00000259008.7:c.3374_3376del MANE Select	ENSP00000259008.2:p.Ala1125del
ENST00000259008.6:c.3374_3376del	ENSP00000259008.2:p.Ala1125del
NM_032043.2:c.3374_3376del , LRG_300t1:c.3374_3376del	NP_114432.2:p.Ala1125del
XM_011525332.1:c.3434_3436del	XP_011523634.1:p.Ala1145del
XM_011525333.1:c.3434_3436del	XP_011523635.1:p.Ala1145del
XM_011525334.1:c.3434_3436del	XP_011523636.1:p.Ala1145del
XM_011525335.1:c.3374_3376del	XP_011523637.1:p.Ala1125del
XM_011525336.1:c.3314_3316del	XP_011523638.1:p.Ala1105del
XM_011525337.1:c.3233_3235del	XP_011523639.1:p.Ala1078del
XM_011525338.1:c.2951_2953del	XP_011523640.1:p.Ala984del
XM_011525332.3:c.3434_3436del	XP_011523634.1:p.Ala1145del
XM_011525333.3:c.3434_3436del	XP_011523635.1:p.Ala1145del
XM_011525334.2:c.3434_3436del	XP_011523636.1:p.Ala1145del
XM_011525335.3:c.3374_3376del	XP_011523637.1:p.Ala1125del
XM_011525336.2:c.3314_3316del	XP_011523638.1:p.Ala1105del
XM_011525337.2:c.3233_3235del	XP_011523639.1:p.Ala1078del
XM_011525338.2:c.2951_2953del	XP_011523640.1:p.Ala984del
XM_017025200.1:c.2891_2893del	XP_016880689.1:p.Ala964del
XM_017025201.1:c.2891_2893del	XP_016880690.1:p.Ala964del
XM_017025202.1:c.1520_1522del	XP_016880691.1:p.Ala507del
XM_017025203.1:c.1520_1522del	XP_016880692.1:p.Ala507del
NM_032043.3:c.3374_3376del MANE Select	NP_114432.2:p.Ala1125del