Canonical Allele Identifier: CA2269131024

Gene: BRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683837_61683838delinsGA , CM000679.2:g.61683837_61683838delinsGA	GRCh38
NC_000017.10:g.59761198_59761199delinsGA , CM000679.1:g.59761198_59761199delinsGA	GRCh37
NC_000017.9:g.57115980_57115981delinsGA	NCBI36
NG_007409.2:g.184722_184723delinsTC , LRG_300:g.184722_184723delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.1948_1949delinsTC
ENST00000682453.1:c.3208_3209delinsTC	ENSP00000506943.1:p.Ser1070=
ENST00000682477.1:c.*2634_*2635delinsTC	ENSP00000507075.1:n.*2634_*2635delinsTC
ENST00000682589.1:n.9085_9086delinsTC
ENST00000682755.1:c.2986_2987delinsTC	ENSP00000507660.1:p.Ser996=
ENST00000682989.1:c.*299_*300delinsTC	ENSP00000507786.1:n.*299_*300delinsTC
ENST00000683039.1:c.3208_3209delinsTC	ENSP00000508303.1:p.Ser1070=
ENST00000683235.1:c.*623_*624delinsTC	ENSP00000507646.1:n.*623_*624delinsTC
ENST00000683535.1:n.1338_1339delinsTC
ENST00000684584.1:c.2371_2372delinsTC	ENSP00000508044.1:p.Ser791=
ENST00000684626.1:n.1454_1455delinsTC
ENST00000684769.1:c.1398_1399delinsTC	ENSP00000507691.1:n.1398_1399delinsTC
ENST00000259008.7:c.3208_3209delinsTC MANE Select	ENSP00000259008.2:p.Ser1070=
ENST00000259008.6:c.3208_3209delinsTC	ENSP00000259008.2:p.Ser1070=
NM_032043.2:c.3208_3209delinsTC , LRG_300t1:c.3208_3209delinsTC	NP_114432.2:p.Ser1070=
XM_011525332.1:c.3268_3269delinsTC	XP_011523634.1:p.Ser1090=
XM_011525333.1:c.3268_3269delinsTC	XP_011523635.1:p.Ser1090=
XM_011525334.1:c.3268_3269delinsTC	XP_011523636.1:p.Ser1090=
XM_011525335.1:c.3208_3209delinsTC	XP_011523637.1:p.Ser1070=
XM_011525336.1:c.3148_3149delinsTC	XP_011523638.1:p.Ser1050=
XM_011525337.1:c.3067_3068delinsTC	XP_011523639.1:p.Ser1023=
XM_011525338.1:c.2785_2786delinsTC	XP_011523640.1:p.Ser929=
XM_011525332.3:c.3268_3269delinsTC	XP_011523634.1:p.Ser1090=
XM_011525333.3:c.3268_3269delinsTC	XP_011523635.1:p.Ser1090=
XM_011525334.2:c.3268_3269delinsTC	XP_011523636.1:p.Ser1090=
XM_011525335.3:c.3208_3209delinsTC	XP_011523637.1:p.Ser1070=
XM_011525336.2:c.3148_3149delinsTC	XP_011523638.1:p.Ser1050=
XM_011525337.2:c.3067_3068delinsTC	XP_011523639.1:p.Ser1023=
XM_011525338.2:c.2785_2786delinsTC	XP_011523640.1:p.Ser929=
XM_017025200.1:c.2725_2726delinsTC	XP_016880689.1:p.Ser909=
XM_017025201.1:c.2725_2726delinsTC	XP_016880690.1:p.Ser909=
XM_017025202.1:c.1354_1355delinsTC	XP_016880691.1:p.Ser452=
XM_017025203.1:c.1354_1355delinsTC	XP_016880692.1:p.Ser452=
NM_032043.3:c.3208_3209delinsTC MANE Select	NP_114432.2:p.Ser1070=