Canonical Allele Identifier: CA2639153819

Gene: BRIP1

Linked Data

• gnomAD v4: 17-61683579-T-TCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683579_61683580insCAG , CM000679.2:g.61683579_61683580insCAG	GRCh38
NC_000017.10:g.59760940_59760941insCAG , CM000679.1:g.59760940_59760941insCAG	GRCh37
NC_000017.9:g.57115722_57115723insCAG	NCBI36
NG_007409.2:g.184980_184981insCTG , LRG_300:g.184980_184981insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2206_2207insCTG
ENST00000682453.1:c.3466_3467insCTG	ENSP00000506943.1:p.Asn1156delinsThrAsp
ENST00000682477.1:c.*2892_*2893insCTG	ENSP00000507075.1:n.*2892_*2893insCTG
ENST00000682589.1:n.9343_9344insCTG
ENST00000682755.1:c.3244_3245insCTG	ENSP00000507660.1:p.Asn1082delinsThrAsp
ENST00000682989.1:c.*557_*558insCTG	ENSP00000507786.1:n.*557_*558insCTG
ENST00000683039.1:c.3466_3467insCTG	ENSP00000508303.1:p.Asn1156delinsThrAsp
ENST00000683235.1:c.*881_*882insCTG	ENSP00000507646.1:n.*881_*882insCTG
ENST00000683535.1:n.1596_1597insCTG
ENST00000684584.1:c.2629_2630insCTG	ENSP00000508044.1:p.Asn877delinsThrAsp
ENST00000684626.1:n.1712_1713insCTG
ENST00000684769.1:c.1656_1657insCTG	ENSP00000507691.1:n.1656_1657insCTG
ENST00000259008.7:c.3466_3467insCTG MANE Select	ENSP00000259008.2:p.Asn1156delinsThrAsp
ENST00000259008.6:c.3466_3467insCTG	ENSP00000259008.2:p.Asn1156delinsThrAsp
NM_032043.2:c.3466_3467insCTG , LRG_300t1:c.3466_3467insCTG	NP_114432.2:p.Asn1156delinsThrAsp
XM_011525332.1:c.3526_3527insCTG	XP_011523634.1:p.Asn1176delinsThrAsp
XM_011525333.1:c.3526_3527insCTG	XP_011523635.1:p.Asn1176delinsThrAsp
XM_011525334.1:c.3526_3527insCTG	XP_011523636.1:p.Asn1176delinsThrAsp
XM_011525335.1:c.3466_3467insCTG	XP_011523637.1:p.Asn1156delinsThrAsp
XM_011525336.1:c.3406_3407insCTG	XP_011523638.1:p.Asn1136delinsThrAsp
XM_011525337.1:c.3325_3326insCTG	XP_011523639.1:p.Asn1109delinsThrAsp
XM_011525338.1:c.3043_3044insCTG	XP_011523640.1:p.Asn1015delinsThrAsp
XM_011525332.3:c.3526_3527insCTG	XP_011523634.1:p.Asn1176delinsThrAsp
XM_011525333.3:c.3526_3527insCTG	XP_011523635.1:p.Asn1176delinsThrAsp
XM_011525334.2:c.3526_3527insCTG	XP_011523636.1:p.Asn1176delinsThrAsp
XM_011525335.3:c.3466_3467insCTG	XP_011523637.1:p.Asn1156delinsThrAsp
XM_011525336.2:c.3406_3407insCTG	XP_011523638.1:p.Asn1136delinsThrAsp
XM_011525337.2:c.3325_3326insCTG	XP_011523639.1:p.Asn1109delinsThrAsp
XM_011525338.2:c.3043_3044insCTG	XP_011523640.1:p.Asn1015delinsThrAsp
XM_017025200.1:c.2983_2984insCTG	XP_016880689.1:p.Asn995delinsThrAsp
XM_017025201.1:c.2983_2984insCTG	XP_016880690.1:p.Asn995delinsThrAsp
XM_017025202.1:c.1612_1613insCTG	XP_016880691.1:p.Asn538delinsThrAsp
XM_017025203.1:c.1612_1613insCTG	XP_016880692.1:p.Asn538delinsThrAsp
NM_032043.3:c.3466_3467insCTG MANE Select	NP_114432.2:p.Asn1156delinsThrAsp