Canonical Allele Identifier: CA2733823019

Gene: BRIP1

Linked Data

• dbSNP Id: rs2144109005

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61685892_61685893del , CM000679.2:g.61685892_61685893del	GRCh38
NC_000017.10:g.59763253_59763254del , CM000679.1:g.59763253_59763254del	GRCh37
NC_000017.9:g.57118035_57118036del	NCBI36
NG_007409.2:g.182669_182670del , LRG_300:g.182669_182670del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682066.1:c.2980_2981del	ENSP00000507191.1:n.2980_2981del
ENST00000682073.1:n.1590_1591del
ENST00000682433.1:n.1929_1930del
ENST00000682453.1:c.2850_2851del	ENSP00000506943.1:p.Lys950AsnfsTer11
ENST00000682477.1:c.*2276_*2277del	ENSP00000507075.1:n.*2276_*2277del
ENST00000682589.1:n.8727_8728del
ENST00000682755.1:c.2628_2629del	ENSP00000507660.1:p.Lys876AsnfsTer11
ENST00000682989.1:c.2610-1751_2610-1750del	ENSP00000507786.1:n.2610-1751_2610-1750de...
ENST00000683039.1:c.2850_2851del	ENSP00000508303.1:p.Lys950AsnfsTer11
ENST00000683235.1:c.*265_*266del	ENSP00000507646.1:n.*265_*266del
ENST00000683535.1:n.980_981del
ENST00000684471.1:n.1263_1264del
ENST00000684584.1:c.2069-1751_2069-1750del	ENSP00000508044.1:n.2069-1751_2069-1750de...
ENST00000684626.1:n.1096_1097del
ENST00000684769.1:c.1040_1041del	ENSP00000507691.1:n.1040_1041del
ENST00000259008.7:c.2850_2851del MANE Select	ENSP00000259008.2:p.Lys950AsnfsTer11
ENST00000259008.6:c.2850_2851del	ENSP00000259008.2:p.Lys950AsnfsTer11
ENST00000577598.5:c.2850_2851del	ENSP00000464654.1:p.Lys950AsnfsTer11
NM_032043.2:c.2850_2851del , LRG_300t1:c.2850_2851del	NP_114432.2:p.Lys950AsnfsTer11
XM_011525332.1:c.2910_2911del	XP_011523634.1:p.Lys970AsnfsTer11
XM_011525333.1:c.2910_2911del	XP_011523635.1:p.Lys970AsnfsTer11
XM_011525334.1:c.2910_2911del	XP_011523636.1:p.Lys970AsnfsTer11
XM_011525335.1:c.2850_2851del	XP_011523637.1:p.Lys950AsnfsTer11
XM_011525336.1:c.2790_2791del	XP_011523638.1:p.Lys930AsnfsTer11
XM_011525337.1:c.2709_2710del	XP_011523639.1:p.Lys903AsnfsTer11
XM_011525338.1:c.2427_2428del	XP_011523640.1:p.Lys809AsnfsTer11
XM_011525332.3:c.2910_2911del	XP_011523634.1:p.Lys970AsnfsTer11
XM_011525333.3:c.2910_2911del	XP_011523635.1:p.Lys970AsnfsTer11
XM_011525334.2:c.2910_2911del	XP_011523636.1:p.Lys970AsnfsTer11
XM_011525335.3:c.2850_2851del	XP_011523637.1:p.Lys950AsnfsTer11
XM_011525336.2:c.2790_2791del	XP_011523638.1:p.Lys930AsnfsTer11
XM_011525337.2:c.2709_2710del	XP_011523639.1:p.Lys903AsnfsTer11
XM_011525338.2:c.2427_2428del	XP_011523640.1:p.Lys809AsnfsTer11
XM_017025200.1:c.2367_2368del	XP_016880689.1:p.Lys789AsnfsTer11
XM_017025201.1:c.2367_2368del	XP_016880690.1:p.Lys789AsnfsTer11
XM_017025202.1:c.996_997del	XP_016880691.1:p.Lys332AsnfsTer11
XM_017025203.1:c.996_997del	XP_016880692.1:p.Lys332AsnfsTer11
NM_032043.3:c.2850_2851del MANE Select	NP_114432.2:p.Lys950AsnfsTer11