Canonical Allele Identifier: CA2269131154

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61684052_61684054delinsCTT , CM000679.2:g.61684052_61684054delinsCTT	GRCh38
NC_000017.10:g.59761413_59761415delinsCTT , CM000679.1:g.59761413_59761415delinsCTT	GRCh37
NC_000017.9:g.57116195_57116197delinsCTT	NCBI36
NG_007409.2:g.184506_184508delinsAAG , LRG_300:g.184506_184508delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1732_1734delinsAAG
ENST00000682453.1:c.2992_2994delinsAAG	ENSP00000506943.1:p.Lys998=
ENST00000682477.1:c.*2418_*2420delinsAAG	ENSP00000507075.1:n.*2418_*2420delinsAAG
ENST00000682589.1:n.8869_8871delinsAAG
ENST00000682755.1:c.2770_2772delinsAAG	ENSP00000507660.1:p.Lys924=
ENST00000682989.1:c.*83_*85delinsAAG	ENSP00000507786.1:n.*83_*85delinsAAG
ENST00000683039.1:c.2992_2994delinsAAG	ENSP00000508303.1:p.Lys998=
ENST00000683235.1:c.*407_*409delinsAAG	ENSP00000507646.1:n.*407_*409delinsAAG
ENST00000683535.1:n.1122_1124delinsAAG
ENST00000684584.1:c.2155_2157delinsAAG	ENSP00000508044.1:p.Lys719=
ENST00000684626.1:n.1238_1240delinsAAG
ENST00000684769.1:c.1182_1184delinsAAG	ENSP00000507691.1:n.1182_1184delinsAAG
ENST00000259008.7:c.2992_2994delinsAAG MANE Select	ENSP00000259008.2:p.Lys998=
ENST00000259008.6:c.2992_2994delinsAAG	ENSP00000259008.2:p.Lys998=
NM_032043.2:c.2992_2994delinsAAG , LRG_300t1:c.2992_2994delinsAAG	NP_114432.2:p.Lys998=
XM_011525332.1:c.3052_3054delinsAAG	XP_011523634.1:p.Lys1018=
XM_011525333.1:c.3052_3054delinsAAG	XP_011523635.1:p.Lys1018=
XM_011525334.1:c.3052_3054delinsAAG	XP_011523636.1:p.Lys1018=
XM_011525335.1:c.2992_2994delinsAAG	XP_011523637.1:p.Lys998=
XM_011525336.1:c.2932_2934delinsAAG	XP_011523638.1:p.Lys978=
XM_011525337.1:c.2851_2853delinsAAG	XP_011523639.1:p.Lys951=
XM_011525338.1:c.2569_2571delinsAAG	XP_011523640.1:p.Lys857=
XM_011525332.3:c.3052_3054delinsAAG	XP_011523634.1:p.Lys1018=
XM_011525333.3:c.3052_3054delinsAAG	XP_011523635.1:p.Lys1018=
XM_011525334.2:c.3052_3054delinsAAG	XP_011523636.1:p.Lys1018=
XM_011525335.3:c.2992_2994delinsAAG	XP_011523637.1:p.Lys998=
XM_011525336.2:c.2932_2934delinsAAG	XP_011523638.1:p.Lys978=
XM_011525337.2:c.2851_2853delinsAAG	XP_011523639.1:p.Lys951=
XM_011525338.2:c.2569_2571delinsAAG	XP_011523640.1:p.Lys857=
XM_017025200.1:c.2509_2511delinsAAG	XP_016880689.1:p.Lys837=
XM_017025201.1:c.2509_2511delinsAAG	XP_016880690.1:p.Lys837=
XM_017025202.1:c.1138_1140delinsAAG	XP_016880691.1:p.Lys380=
XM_017025203.1:c.1138_1140delinsAAG	XP_016880692.1:p.Lys380=
NM_032043.3:c.2992_2994delinsAAG MANE Select	NP_114432.2:p.Lys998=