Canonical Allele Identifier: CA8690364

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 483163
• ClinVar RCV Id: RCV000561490 ; RCV000636076 ; RCV000657331
• dbSNP Id: rs753683450
• ExAC: 17:59760966 A / AT
• gnomAD v2: 17-59760966-A-AT
• gnomAD v3: 17-61683605-A-AT
• gnomAD v4: 17-61683605-A-AT
• MyVariant Identifiers: chr17:g.59760967dup (hg19) ; chr17:g.59760966_59760967insT (hg19) ; chr17:g.61683606dup (hg38) ; chr17:g.61683605_61683606insT (hg38)
• PubMed: PMID:20068231 ; PMID:22792074

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683612dup , CM000679.2:g.61683612dup	GRCh38
NC_000017.10:g.59760973dup , CM000679.1:g.59760973dup	GRCh37
NC_000017.9:g.57115755dup	NCBI36
NG_007409.2:g.184954dup , LRG_300:g.184954dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2180dup
ENST00000682453.1:c.3440dup	ENSP00000506943.1:p.Asn1147LysfsTer2
ENST00000682477.1:c.*2866dup	ENSP00000507075.1:n.*2866dup
ENST00000682589.1:n.9317dup
ENST00000682755.1:c.3218dup	ENSP00000507660.1:p.Asn1073LysfsTer2
ENST00000682989.1:c.*531dup	ENSP00000507786.1:n.*531dup
ENST00000683039.1:c.3440dup	ENSP00000508303.1:p.Asn1147LysfsTer2
ENST00000683235.1:c.*855dup	ENSP00000507646.1:n.*855dup
ENST00000683535.1:n.1570dup
ENST00000684584.1:c.2603dup	ENSP00000508044.1:p.Asn868LysfsTer2
ENST00000684626.1:n.1686dup
ENST00000684769.1:c.1630dup	ENSP00000507691.1:n.1630dup
ENST00000259008.7:c.3440dup MANE Select	ENSP00000259008.2:p.Asn1147LysfsTer2
ENST00000259008.6:c.3440dup	ENSP00000259008.2:p.Asn1147LysfsTer2
NM_032043.2:c.3440dup , LRG_300t1:c.3440dup	NP_114432.2:p.Asn1147LysfsTer2
XM_011525332.1:c.3500dup	XP_011523634.1:p.Asn1167LysfsTer2
XM_011525333.1:c.3500dup	XP_011523635.1:p.Asn1167LysfsTer2
XM_011525334.1:c.3500dup	XP_011523636.1:p.Asn1167LysfsTer2
XM_011525335.1:c.3440dup	XP_011523637.1:p.Asn1147LysfsTer2
XM_011525336.1:c.3380dup	XP_011523638.1:p.Asn1127LysfsTer2
XM_011525337.1:c.3299dup	XP_011523639.1:p.Asn1100LysfsTer2
XM_011525338.1:c.3017dup	XP_011523640.1:p.Asn1006LysfsTer2
XM_011525332.3:c.3500dup	XP_011523634.1:p.Asn1167LysfsTer2
XM_011525333.3:c.3500dup	XP_011523635.1:p.Asn1167LysfsTer2
XM_011525334.2:c.3500dup	XP_011523636.1:p.Asn1167LysfsTer2
XM_011525335.3:c.3440dup	XP_011523637.1:p.Asn1147LysfsTer2
XM_011525336.2:c.3380dup	XP_011523638.1:p.Asn1127LysfsTer2
XM_011525337.2:c.3299dup	XP_011523639.1:p.Asn1100LysfsTer2
XM_011525338.2:c.3017dup	XP_011523640.1:p.Asn1006LysfsTer2
XM_017025200.1:c.2957dup	XP_016880689.1:p.Asn986LysfsTer2
XM_017025201.1:c.2957dup	XP_016880690.1:p.Asn986LysfsTer2
XM_017025202.1:c.1586dup	XP_016880691.1:p.Asn529LysfsTer2
XM_017025203.1:c.1586dup	XP_016880692.1:p.Asn529LysfsTer2
NM_032043.3:c.3440dup MANE Select	NP_114432.2:p.Asn1147LysfsTer2