Canonical Allele Identifier: CA2576344980

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61684003del , CM000679.2:g.61684003del	GRCh38
NC_000017.10:g.59761364del , CM000679.1:g.59761364del	GRCh37
NC_000017.9:g.57116146del	NCBI36
NG_007409.2:g.184560del , LRG_300:g.184560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1786del
ENST00000682453.1:c.3046del	ENSP00000506943.1:p.Ile1016TyrfsTer?
ENST00000682477.1:c.*2472del	ENSP00000507075.1:n.*2472del
ENST00000682589.1:n.8923del
ENST00000682755.1:c.2824del	ENSP00000507660.1:p.Ile942TyrfsTer?
ENST00000682989.1:c.*137del	ENSP00000507786.1:n.*137del
ENST00000683039.1:c.3046del	ENSP00000508303.1:p.Ile1016TyrfsTer?
ENST00000683235.1:c.*461del	ENSP00000507646.1:n.*461del
ENST00000683535.1:n.1176del
ENST00000684584.1:c.2209del	ENSP00000508044.1:p.Ile737TyrfsTer?
ENST00000684626.1:n.1292del
ENST00000684769.1:c.1236del	ENSP00000507691.1:n.1236del
ENST00000259008.7:c.3046del MANE Select	ENSP00000259008.2:p.Ile1016TyrfsTer?
ENST00000259008.6:c.3046del	ENSP00000259008.2:p.Ile1016TyrfsTer?
NM_032043.2:c.3046del , LRG_300t1:c.3046del	NP_114432.2:p.Ile1016TyrfsTer?
XM_011525332.1:c.3106del	XP_011523634.1:p.Ile1036TyrfsTer?
XM_011525333.1:c.3106del	XP_011523635.1:p.Ile1036TyrfsTer?
XM_011525334.1:c.3106del	XP_011523636.1:p.Ile1036TyrfsTer?
XM_011525335.1:c.3046del	XP_011523637.1:p.Ile1016TyrfsTer?
XM_011525336.1:c.2986del	XP_011523638.1:p.Ile996TyrfsTer?
XM_011525337.1:c.2905del	XP_011523639.1:p.Ile969TyrfsTer?
XM_011525338.1:c.2623del	XP_011523640.1:p.Ile875TyrfsTer?
XM_011525332.3:c.3106del	XP_011523634.1:p.Ile1036TyrfsTer?
XM_011525333.3:c.3106del	XP_011523635.1:p.Ile1036TyrfsTer?
XM_011525334.2:c.3106del	XP_011523636.1:p.Ile1036TyrfsTer?
XM_011525335.3:c.3046del	XP_011523637.1:p.Ile1016TyrfsTer?
XM_011525336.2:c.2986del	XP_011523638.1:p.Ile996TyrfsTer?
XM_011525337.2:c.2905del	XP_011523639.1:p.Ile969TyrfsTer?
XM_011525338.2:c.2623del	XP_011523640.1:p.Ile875TyrfsTer?
XM_017025200.1:c.2563del	XP_016880689.1:p.Ile855TyrfsTer?
XM_017025201.1:c.2563del	XP_016880690.1:p.Ile855TyrfsTer?
XM_017025202.1:c.1192del	XP_016880691.1:p.Ile398TyrfsTer?
XM_017025203.1:c.1192del	XP_016880692.1:p.Ile398TyrfsTer?
NM_032043.3:c.3046del MANE Select	NP_114432.2:p.Ile1016TyrfsTer?