Canonical Allele Identifier: CA157685

Gene: BRIP1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61776461_61776462dup , CM000679.2:g.61776461_61776462dup	GRCh38
NC_000017.10:g.59853822_59853823dup , CM000679.1:g.59853822_59853823dup	GRCh37
NC_000017.9:g.57208604_57208605dup	NCBI36
NG_007409.2:g.92100_92101dup , LRG_300:g.92100_92101dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579028.2:c.1620_1621dup	ENSP00000463827.2:n.1620_1621dup
ENST00000584322.2:c.2038_2039dup	ENSP00000463272.2:p.Leu680PhefsTer9
ENST00000682066.1:c.1531_1532dup	ENSP00000507191.1:p.Leu511PhefsTer9
ENST00000682073.1:n.778_779dup
ENST00000682433.1:n.1117_1118dup
ENST00000682453.1:c.2038_2039dup	ENSP00000506943.1:p.Leu680PhefsTer9
ENST00000682477.1:c.*1464_*1465dup	ENSP00000507075.1:n.*1464_*1465dup
ENST00000682589.1:n.7915_7916dup
ENST00000682611.1:c.1697_1698dup	ENSP00000508326.1:n.1697_1698dup
ENST00000682755.1:c.1816_1817dup	ENSP00000507660.1:p.Leu606PhefsTer9
ENST00000682989.1:c.2038_2039dup	ENSP00000507786.1:p.Leu680PhefsTer9
ENST00000683039.1:c.2038_2039dup	ENSP00000508303.1:p.Leu680PhefsTer9
ENST00000683235.1:c.2038_2039dup	ENSP00000507646.1:p.Leu680PhefsTer9
ENST00000683381.1:c.2098_2099dup	ENSP00000508184.1:p.Leu700PhefsTer9
ENST00000683535.1:n.168_169dup
ENST00000684471.1:n.451_452dup
ENST00000684584.1:c.1531_1532dup	ENSP00000508044.1:p.Leu511PhefsTer9
ENST00000684769.1:c.103_104dup	ENSP00000507691.1:p.Leu35PhefsTer9
ENST00000259008.7:c.2038_2039dup MANE Select	ENSP00000259008.2:p.Leu680PhefsTer9
ENST00000259008.6:c.2038_2039dup	ENSP00000259008.2:p.Leu680PhefsTer9
ENST00000577598.5:c.2038_2039dup	ENSP00000464654.1:p.Leu680PhefsTer9
ENST00000579028.1:c.731_732dup
ENST00000583837.5:n.120_121dup
ENST00000584322.1:c.21_22dup
NM_032043.2:c.2038_2039dup , LRG_300t1:c.2038_2039dup	NP_114432.2:p.Leu680PhefsTer9
XM_011525332.1:c.2098_2099dup	XP_011523634.1:p.Leu700PhefsTer9
XM_011525333.1:c.2098_2099dup	XP_011523635.1:p.Leu700PhefsTer9
XM_011525334.1:c.2098_2099dup	XP_011523636.1:p.Leu700PhefsTer9
XM_011525335.1:c.2038_2039dup	XP_011523637.1:p.Leu680PhefsTer9
XM_011525336.1:c.1978_1979dup	XP_011523638.1:p.Leu660PhefsTer9
XM_011525337.1:c.1897_1898dup	XP_011523639.1:p.Leu633PhefsTer9
XM_011525338.1:c.1615_1616dup	XP_011523640.1:p.Leu539PhefsTer9
XM_011525339.1:c.2098_2099dup	XP_011523641.1:p.Leu700PhefsTer9
XM_011525340.1:c.2098_2099dup	XP_011523642.1:p.Leu700PhefsTer9
XM_011525332.3:c.2098_2099dup	XP_011523634.1:p.Leu700PhefsTer9
XM_011525333.3:c.2098_2099dup	XP_011523635.1:p.Leu700PhefsTer9
XM_011525334.2:c.2098_2099dup	XP_011523636.1:p.Leu700PhefsTer9
XM_011525335.3:c.2038_2039dup	XP_011523637.1:p.Leu680PhefsTer9
XM_011525336.2:c.1978_1979dup	XP_011523638.1:p.Leu660PhefsTer9
XM_011525337.2:c.1897_1898dup	XP_011523639.1:p.Leu633PhefsTer9
XM_011525338.2:c.1615_1616dup	XP_011523640.1:p.Leu539PhefsTer9
XM_011525339.3:c.2098_2099dup	XP_011523641.1:p.Leu700PhefsTer9
XM_011525340.3:c.2098_2099dup	XP_011523642.1:p.Leu700PhefsTer9
XM_017025200.1:c.1555_1556dup	XP_016880689.1:p.Leu519PhefsTer9
XM_017025201.1:c.1555_1556dup	XP_016880690.1:p.Leu519PhefsTer9
XM_017025202.1:c.184_185dup	XP_016880691.1:p.Leu62PhefsTer9
XM_017025203.1:c.184_185dup	XP_016880692.1:p.Leu62PhefsTer9
NM_032043.3:c.2038_2039dup MANE Select	NP_114432.2:p.Leu680PhefsTer9