Canonical Allele Identifier: CA2639153822

Gene: BRIP1

Linked Data

• gnomAD v4: 17-61683704-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683706_61683707del , CM000679.2:g.61683706_61683707del	GRCh38
NC_000017.10:g.59761067_59761068del , CM000679.1:g.59761067_59761068del	GRCh37
NC_000017.9:g.57115849_57115850del	NCBI36
NG_007409.2:g.184854_184855del , LRG_300:g.184854_184855del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2080_2081del
ENST00000682453.1:c.3340_3341del	ENSP00000506943.1:p.Gln1114ValfsTer5
ENST00000682477.1:c.*2766_*2767del	ENSP00000507075.1:n.*2766_*2767del
ENST00000682589.1:n.9217_9218del
ENST00000682755.1:c.3118_3119del	ENSP00000507660.1:p.Gln1040ValfsTer5
ENST00000682989.1:c.*431_*432del	ENSP00000507786.1:n.*431_*432del
ENST00000683039.1:c.3340_3341del	ENSP00000508303.1:p.Gln1114ValfsTer5
ENST00000683235.1:c.*755_*756del	ENSP00000507646.1:n.*755_*756del
ENST00000683535.1:n.1470_1471del
ENST00000684584.1:c.2503_2504del	ENSP00000508044.1:p.Gln835ValfsTer5
ENST00000684626.1:n.1586_1587del
ENST00000684769.1:c.1530_1531del	ENSP00000507691.1:n.1530_1531del
ENST00000259008.7:c.3340_3341del MANE Select	ENSP00000259008.2:p.Gln1114ValfsTer5
ENST00000259008.6:c.3340_3341del	ENSP00000259008.2:p.Gln1114ValfsTer5
NM_032043.2:c.3340_3341del , LRG_300t1:c.3340_3341del	NP_114432.2:p.Gln1114ValfsTer5
XM_011525332.1:c.3400_3401del	XP_011523634.1:p.Gln1134ValfsTer5
XM_011525333.1:c.3400_3401del	XP_011523635.1:p.Gln1134ValfsTer5
XM_011525334.1:c.3400_3401del	XP_011523636.1:p.Gln1134ValfsTer5
XM_011525335.1:c.3340_3341del	XP_011523637.1:p.Gln1114ValfsTer5
XM_011525336.1:c.3280_3281del	XP_011523638.1:p.Gln1094ValfsTer5
XM_011525337.1:c.3199_3200del	XP_011523639.1:p.Gln1067ValfsTer5
XM_011525338.1:c.2917_2918del	XP_011523640.1:p.Gln973ValfsTer5
XM_011525332.3:c.3400_3401del	XP_011523634.1:p.Gln1134ValfsTer5
XM_011525333.3:c.3400_3401del	XP_011523635.1:p.Gln1134ValfsTer5
XM_011525334.2:c.3400_3401del	XP_011523636.1:p.Gln1134ValfsTer5
XM_011525335.3:c.3340_3341del	XP_011523637.1:p.Gln1114ValfsTer5
XM_011525336.2:c.3280_3281del	XP_011523638.1:p.Gln1094ValfsTer5
XM_011525337.2:c.3199_3200del	XP_011523639.1:p.Gln1067ValfsTer5
XM_011525338.2:c.2917_2918del	XP_011523640.1:p.Gln973ValfsTer5
XM_017025200.1:c.2857_2858del	XP_016880689.1:p.Gln953ValfsTer5
XM_017025201.1:c.2857_2858del	XP_016880690.1:p.Gln953ValfsTer5
XM_017025202.1:c.1486_1487del	XP_016880691.1:p.Gln496ValfsTer5
XM_017025203.1:c.1486_1487del	XP_016880692.1:p.Gln496ValfsTer5
NM_032043.3:c.3340_3341del MANE Select	NP_114432.2:p.Gln1114ValfsTer5