Canonical Allele Identifier: CA2639153824

Gene: BRIP1

Linked Data

• gnomAD v4: 17-61683769-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683769_61683770insAA , CM000679.2:g.61683769_61683770insAA	GRCh38
NC_000017.10:g.59761130_59761131insAA , CM000679.1:g.59761130_59761131insAA	GRCh37
NC_000017.9:g.57115912_57115913insAA	NCBI36
NG_007409.2:g.184790_184791insTT , LRG_300:g.184790_184791insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2016_2017insTT
ENST00000682453.1:c.3276_3277insTT	ENSP00000506943.1:p.Leu1093PhefsTer16
ENST00000682477.1:c.*2702_*2703insTT	ENSP00000507075.1:n.*2702_*2703insTT
ENST00000682589.1:n.9153_9154insTT
ENST00000682755.1:c.3054_3055insTT	ENSP00000507660.1:p.Leu1019PhefsTer16
ENST00000682989.1:c.*367_*368insTT	ENSP00000507786.1:n.*367_*368insTT
ENST00000683039.1:c.3276_3277insTT	ENSP00000508303.1:p.Leu1093PhefsTer16
ENST00000683235.1:c.*691_*692insTT	ENSP00000507646.1:n.*691_*692insTT
ENST00000683535.1:n.1406_1407insTT
ENST00000684584.1:c.2439_2440insTT	ENSP00000508044.1:p.Leu814PhefsTer16
ENST00000684626.1:n.1522_1523insTT
ENST00000684769.1:c.1466_1467insTT	ENSP00000507691.1:n.1466_1467insTT
ENST00000259008.7:c.3276_3277insTT MANE Select	ENSP00000259008.2:p.Leu1093PhefsTer16
ENST00000259008.6:c.3276_3277insTT	ENSP00000259008.2:p.Leu1093PhefsTer16
NM_032043.2:c.3276_3277insTT , LRG_300t1:c.3276_3277insTT	NP_114432.2:p.Leu1093PhefsTer16
XM_011525332.1:c.3336_3337insTT	XP_011523634.1:p.Leu1113PhefsTer16
XM_011525333.1:c.3336_3337insTT	XP_011523635.1:p.Leu1113PhefsTer16
XM_011525334.1:c.3336_3337insTT	XP_011523636.1:p.Leu1113PhefsTer16
XM_011525335.1:c.3276_3277insTT	XP_011523637.1:p.Leu1093PhefsTer16
XM_011525336.1:c.3216_3217insTT	XP_011523638.1:p.Leu1073PhefsTer16
XM_011525337.1:c.3135_3136insTT	XP_011523639.1:p.Leu1046PhefsTer16
XM_011525338.1:c.2853_2854insTT	XP_011523640.1:p.Leu952PhefsTer16
XM_011525332.3:c.3336_3337insTT	XP_011523634.1:p.Leu1113PhefsTer16
XM_011525333.3:c.3336_3337insTT	XP_011523635.1:p.Leu1113PhefsTer16
XM_011525334.2:c.3336_3337insTT	XP_011523636.1:p.Leu1113PhefsTer16
XM_011525335.3:c.3276_3277insTT	XP_011523637.1:p.Leu1093PhefsTer16
XM_011525336.2:c.3216_3217insTT	XP_011523638.1:p.Leu1073PhefsTer16
XM_011525337.2:c.3135_3136insTT	XP_011523639.1:p.Leu1046PhefsTer16
XM_011525338.2:c.2853_2854insTT	XP_011523640.1:p.Leu952PhefsTer16
XM_017025200.1:c.2793_2794insTT	XP_016880689.1:p.Leu932PhefsTer16
XM_017025201.1:c.2793_2794insTT	XP_016880690.1:p.Leu932PhefsTer16
XM_017025202.1:c.1422_1423insTT	XP_016880691.1:p.Leu475PhefsTer16
XM_017025203.1:c.1422_1423insTT	XP_016880692.1:p.Leu475PhefsTer16
NM_032043.3:c.3276_3277insTT MANE Select	NP_114432.2:p.Leu1093PhefsTer16