Canonical Allele Identifier: CA2573154322

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 1377837
• ClinVar RCV Id: RCV001889999
• dbSNP Id: rs2145826463
• gnomAD v4: 17-61857074-A-AGTGCCATT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61857075_61857082dup , CM000679.2:g.61857075_61857082dup	GRCh38
NC_000017.10:g.59934436_59934443dup , CM000679.1:g.59934436_59934443dup	GRCh37
NC_000017.9:g.57289218_57289225dup	NCBI36
NG_007409.2:g.11478_11485dup , LRG_300:g.11478_11485dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000577913.2:c.355_362dup	ENSP00000462274.2:p.Ser122MetfsTer?
ENST00000584322.2:c.355_362dup	ENSP00000463272.2:p.Ser122MetfsTer?
ENST00000682369.1:c.355_362dup	ENSP00000507450.1:p.Ser122MetfsTer?
ENST00000682453.1:c.355_362dup	ENSP00000506943.1:p.Ser122MetfsTer?
ENST00000682477.1:c.355_362dup	ENSP00000507075.1:p.Ser122MetfsTer?
ENST00000682589.1:n.2096_2103dup
ENST00000682755.1:c.355_362dup	ENSP00000507660.1:p.Ser122MetfsTer?
ENST00000682989.1:c.355_362dup	ENSP00000507786.1:p.Ser122MetfsTer?
ENST00000683039.1:c.355_362dup	ENSP00000508303.1:p.Ser122MetfsTer?
ENST00000683235.1:c.355_362dup	ENSP00000507646.1:p.Ser122MetfsTer?
ENST00000683381.1:c.355_362dup	ENSP00000508184.1:p.Ser122MetfsTer?
ENST00000683672.1:c.58_65dup	ENSP00000506781.1:p.Ser23MetfsTer?
ENST00000259008.7:c.355_362dup MANE Select	ENSP00000259008.2:p.Ser122MetfsTer?
ENST00000259008.6:c.355_362dup	ENSP00000259008.2:p.Ser122MetfsTer?
ENST00000577598.5:c.355_362dup	ENSP00000464654.1:p.Ser122MetfsTer?
NM_032043.2:c.355_362dup , LRG_300t1:c.355_362dup	NP_114432.2:p.Ser122MetfsTer?
XM_011525332.1:c.355_362dup	XP_011523634.1:p.Ser122MetfsTer?
XM_011525333.1:c.355_362dup	XP_011523635.1:p.Ser122MetfsTer?
XM_011525334.1:c.355_362dup	XP_011523636.1:p.Ser122MetfsTer?
XM_011525335.1:c.355_362dup	XP_011523637.1:p.Ser122MetfsTer?
XM_011525336.1:c.355_362dup	XP_011523638.1:p.Ser122MetfsTer?
XM_011525337.1:c.355_362dup	XP_011523639.1:p.Ser122MetfsTer?
XM_011525338.1:c.-1_7dup	XP_011523640.1:p.Leu3GlnfsTer33
XM_011525339.1:c.355_362dup	XP_011523641.1:p.Ser122MetfsTer?
XM_011525340.1:c.355_362dup	XP_011523642.1:p.Ser122MetfsTer?
XM_011525341.1:c.355_362dup	XP_011523643.1:p.Ser122MetfsTer?
XM_011525332.3:c.355_362dup	XP_011523634.1:p.Ser122MetfsTer?
XM_011525333.3:c.355_362dup	XP_011523635.1:p.Ser122MetfsTer?
XM_011525334.2:c.355_362dup	XP_011523636.1:p.Ser122MetfsTer?
XM_011525335.3:c.355_362dup	XP_011523637.1:p.Ser122MetfsTer?
XM_011525336.2:c.355_362dup	XP_011523638.1:p.Ser122MetfsTer?
XM_011525337.2:c.355_362dup	XP_011523639.1:p.Ser122MetfsTer?
XM_011525338.2:c.-1_7dup	XP_011523640.1:p.Leu3GlnfsTer33
XM_011525339.3:c.355_362dup	XP_011523641.1:p.Ser122MetfsTer?
XM_011525340.3:c.355_362dup	XP_011523642.1:p.Ser122MetfsTer?
XM_011525341.3:c.355_362dup	XP_011523643.1:p.Ser122MetfsTer?
XM_017025200.1:c.-1_7dup	XP_016880689.1:p.Leu3GlnfsTer33
NM_032043.3:c.355_362dup MANE Select	NP_114432.2:p.Ser122MetfsTer?