Canonical Allele Identifier: CA2269130875

Gene: BRIP1

Linked Data

• dbSNP Id: rs753683450
• gnomAD v4: 17-61683605-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683612del , CM000679.2:g.61683612del	GRCh38
NC_000017.10:g.59760973del , CM000679.1:g.59760973del	GRCh37
NC_000017.9:g.57115755del	NCBI36
NG_007409.2:g.184954del , LRG_300:g.184954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2180del
ENST00000682453.1:c.3440del	ENSP00000506943.1:p.Asn1147MetfsTer3
ENST00000682477.1:c.*2866del	ENSP00000507075.1:n.*2866del
ENST00000682589.1:n.9317del
ENST00000682755.1:c.3218del	ENSP00000507660.1:p.Asn1073MetfsTer3
ENST00000682989.1:c.*531del	ENSP00000507786.1:n.*531del
ENST00000683039.1:c.3440del	ENSP00000508303.1:p.Asn1147MetfsTer3
ENST00000683235.1:c.*855del	ENSP00000507646.1:n.*855del
ENST00000683535.1:n.1570del
ENST00000684584.1:c.2603del	ENSP00000508044.1:p.Asn868MetfsTer3
ENST00000684626.1:n.1686del
ENST00000684769.1:c.1630del	ENSP00000507691.1:n.1630del
ENST00000259008.7:c.3440del MANE Select	ENSP00000259008.2:p.Asn1147MetfsTer3
ENST00000259008.6:c.3440del	ENSP00000259008.2:p.Asn1147MetfsTer3
NM_032043.2:c.3440del , LRG_300t1:c.3440del	NP_114432.2:p.Asn1147MetfsTer3
XM_011525332.1:c.3500del	XP_011523634.1:p.Asn1167MetfsTer3
XM_011525333.1:c.3500del	XP_011523635.1:p.Asn1167MetfsTer3
XM_011525334.1:c.3500del	XP_011523636.1:p.Asn1167MetfsTer3
XM_011525335.1:c.3440del	XP_011523637.1:p.Asn1147MetfsTer3
XM_011525336.1:c.3380del	XP_011523638.1:p.Asn1127MetfsTer3
XM_011525337.1:c.3299del	XP_011523639.1:p.Asn1100MetfsTer3
XM_011525338.1:c.3017del	XP_011523640.1:p.Asn1006MetfsTer3
XM_011525332.3:c.3500del	XP_011523634.1:p.Asn1167MetfsTer3
XM_011525333.3:c.3500del	XP_011523635.1:p.Asn1167MetfsTer3
XM_011525334.2:c.3500del	XP_011523636.1:p.Asn1167MetfsTer3
XM_011525335.3:c.3440del	XP_011523637.1:p.Asn1147MetfsTer3
XM_011525336.2:c.3380del	XP_011523638.1:p.Asn1127MetfsTer3
XM_011525337.2:c.3299del	XP_011523639.1:p.Asn1100MetfsTer3
XM_011525338.2:c.3017del	XP_011523640.1:p.Asn1006MetfsTer3
XM_017025200.1:c.2957del	XP_016880689.1:p.Asn986MetfsTer3
XM_017025201.1:c.2957del	XP_016880690.1:p.Asn986MetfsTer3
XM_017025202.1:c.1586del	XP_016880691.1:p.Asn529MetfsTer3
XM_017025203.1:c.1586del	XP_016880692.1:p.Asn529MetfsTer3
NM_032043.3:c.3440del MANE Select	NP_114432.2:p.Asn1147MetfsTer3