Canonical Allele Identifier: CA658798935

Gene: BRIP1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61776461_61776462del , CM000679.2:g.61776461_61776462del	GRCh38
NC_000017.10:g.59853822_59853823del , CM000679.1:g.59853822_59853823del	GRCh37
NC_000017.9:g.57208604_57208605del	NCBI36
NG_007409.2:g.92100_92101del , LRG_300:g.92100_92101del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579028.2:c.1620_1621del	ENSP00000463827.2:n.1620_1621del
ENST00000584322.2:c.2038_2039del	ENSP00000463272.2:p.Leu680ValfsTer?
ENST00000682066.1:c.1531_1532del	ENSP00000507191.1:p.Leu511ValfsTer?
ENST00000682073.1:n.778_779del
ENST00000682433.1:n.1117_1118del
ENST00000682453.1:c.2038_2039del	ENSP00000506943.1:p.Leu680ValfsTer?
ENST00000682477.1:c.*1464_*1465del	ENSP00000507075.1:n.*1464_*1465del
ENST00000682589.1:n.7915_7916del
ENST00000682611.1:c.1697_1698del	ENSP00000508326.1:n.1697_1698del
ENST00000682755.1:c.1816_1817del	ENSP00000507660.1:p.Leu606ValfsTer?
ENST00000682989.1:c.2038_2039del	ENSP00000507786.1:p.Leu680ValfsTer?
ENST00000683039.1:c.2038_2039del	ENSP00000508303.1:p.Leu680ValfsTer?
ENST00000683235.1:c.2038_2039del	ENSP00000507646.1:p.Leu680ValfsTer?
ENST00000683381.1:c.2098_2099del	ENSP00000508184.1:p.Leu700ValfsTer?
ENST00000683535.1:n.168_169del
ENST00000684471.1:n.451_452del
ENST00000684584.1:c.1531_1532del	ENSP00000508044.1:p.Leu511ValfsTer?
ENST00000684769.1:c.103_104del	ENSP00000507691.1:p.Leu35ValfsTer?
ENST00000259008.7:c.2038_2039del MANE Select	ENSP00000259008.2:p.Leu680ValfsTer?
ENST00000259008.6:c.2038_2039del	ENSP00000259008.2:p.Leu680ValfsTer?
ENST00000577598.5:c.2038_2039del	ENSP00000464654.1:p.Leu680ValfsTer?
ENST00000579028.1:c.731_732del
ENST00000583837.5:n.120_121del
ENST00000584322.1:c.21_22del
NM_032043.2:c.2038_2039del , LRG_300t1:c.2038_2039del	NP_114432.2:p.Leu680ValfsTer?
XM_011525332.1:c.2098_2099del	XP_011523634.1:p.Leu700ValfsTer?
XM_011525333.1:c.2098_2099del	XP_011523635.1:p.Leu700ValfsTer?
XM_011525334.1:c.2098_2099del	XP_011523636.1:p.Leu700ValfsTer?
XM_011525335.1:c.2038_2039del	XP_011523637.1:p.Leu680ValfsTer?
XM_011525336.1:c.1978_1979del	XP_011523638.1:p.Leu660ValfsTer?
XM_011525337.1:c.1897_1898del	XP_011523639.1:p.Leu633ValfsTer?
XM_011525338.1:c.1615_1616del	XP_011523640.1:p.Leu539ValfsTer?
XM_011525339.1:c.2098_2099del	XP_011523641.1:p.Leu700ValfsTer?
XM_011525340.1:c.2098_2099del	XP_011523642.1:p.Leu700ValfsTer?
XM_011525332.3:c.2098_2099del	XP_011523634.1:p.Leu700ValfsTer?
XM_011525333.3:c.2098_2099del	XP_011523635.1:p.Leu700ValfsTer?
XM_011525334.2:c.2098_2099del	XP_011523636.1:p.Leu700ValfsTer?
XM_011525335.3:c.2038_2039del	XP_011523637.1:p.Leu680ValfsTer?
XM_011525336.2:c.1978_1979del	XP_011523638.1:p.Leu660ValfsTer?
XM_011525337.2:c.1897_1898del	XP_011523639.1:p.Leu633ValfsTer?
XM_011525338.2:c.1615_1616del	XP_011523640.1:p.Leu539ValfsTer?
XM_011525339.3:c.2098_2099del	XP_011523641.1:p.Leu700ValfsTer?
XM_011525340.3:c.2098_2099del	XP_011523642.1:p.Leu700ValfsTer?
XM_017025200.1:c.1555_1556del	XP_016880689.1:p.Leu519ValfsTer?
XM_017025201.1:c.1555_1556del	XP_016880690.1:p.Leu519ValfsTer?
XM_017025202.1:c.184_185del	XP_016880691.1:p.Leu62ValfsTer?
XM_017025203.1:c.184_185del	XP_016880692.1:p.Leu62ValfsTer?
NM_032043.3:c.2038_2039del MANE Select	NP_114432.2:p.Leu680ValfsTer?