Canonical Allele Identifier: CA2733821272

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144078673

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683681dup , CM000679.2:g.61683681dup	GRCh38
NC_000017.10:g.59761042dup , CM000679.1:g.59761042dup	GRCh37
NC_000017.9:g.57115824dup	NCBI36
NG_007409.2:g.184881dup , LRG_300:g.184881dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2107dup
ENST00000682453.1:c.3367dup	ENSP00000506943.1:p.Thr1123AsnfsTer6
ENST00000682477.1:c.*2793dup	ENSP00000507075.1:n.*2793dup
ENST00000682589.1:n.9244dup
ENST00000682755.1:c.3145dup	ENSP00000507660.1:p.Thr1049AsnfsTer6
ENST00000682989.1:c.*458dup	ENSP00000507786.1:n.*458dup
ENST00000683039.1:c.3367dup	ENSP00000508303.1:p.Thr1123AsnfsTer6
ENST00000683235.1:c.*782dup	ENSP00000507646.1:n.*782dup
ENST00000683535.1:n.1497dup
ENST00000684584.1:c.2530dup	ENSP00000508044.1:p.Thr844AsnfsTer6
ENST00000684626.1:n.1613dup
ENST00000684769.1:c.1557dup	ENSP00000507691.1:n.1557dup
ENST00000259008.7:c.3367dup MANE Select	ENSP00000259008.2:p.Thr1123AsnfsTer6
ENST00000259008.6:c.3367dup	ENSP00000259008.2:p.Thr1123AsnfsTer6
NM_032043.2:c.3367dup , LRG_300t1:c.3367dup	NP_114432.2:p.Thr1123AsnfsTer6
XM_011525332.1:c.3427dup	XP_011523634.1:p.Thr1143AsnfsTer6
XM_011525333.1:c.3427dup	XP_011523635.1:p.Thr1143AsnfsTer6
XM_011525334.1:c.3427dup	XP_011523636.1:p.Thr1143AsnfsTer6
XM_011525335.1:c.3367dup	XP_011523637.1:p.Thr1123AsnfsTer6
XM_011525336.1:c.3307dup	XP_011523638.1:p.Thr1103AsnfsTer6
XM_011525337.1:c.3226dup	XP_011523639.1:p.Thr1076AsnfsTer6
XM_011525338.1:c.2944dup	XP_011523640.1:p.Thr982AsnfsTer6
XM_011525332.3:c.3427dup	XP_011523634.1:p.Thr1143AsnfsTer6
XM_011525333.3:c.3427dup	XP_011523635.1:p.Thr1143AsnfsTer6
XM_011525334.2:c.3427dup	XP_011523636.1:p.Thr1143AsnfsTer6
XM_011525335.3:c.3367dup	XP_011523637.1:p.Thr1123AsnfsTer6
XM_011525336.2:c.3307dup	XP_011523638.1:p.Thr1103AsnfsTer6
XM_011525337.2:c.3226dup	XP_011523639.1:p.Thr1076AsnfsTer6
XM_011525338.2:c.2944dup	XP_011523640.1:p.Thr982AsnfsTer6
XM_017025200.1:c.2884dup	XP_016880689.1:p.Thr962AsnfsTer6
XM_017025201.1:c.2884dup	XP_016880690.1:p.Thr962AsnfsTer6
XM_017025202.1:c.1513dup	XP_016880691.1:p.Thr505AsnfsTer6
XM_017025203.1:c.1513dup	XP_016880692.1:p.Thr505AsnfsTer6
NM_032043.3:c.3367dup MANE Select	NP_114432.2:p.Thr1123AsnfsTer6