Canonical Allele Identifier: CA773833107

Gene: BRIP1

Linked Data

• dbSNP Id: rs1166172906
• gnomAD v3: 17-61779257-GT-G
• gnomAD v4: 17-61779257-GT-G
• MyVariant Identifiers: chr17:g.59856619del (hg19) ; chr17:g.61779258del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61779258del , CM000679.2:g.61779258del	GRCh38
NC_000017.10:g.59856619del , CM000679.1:g.59856619del	GRCh37
NC_000017.9:g.57211401del	NCBI36
NG_007409.2:g.89302del , LRG_300:g.89302del

Transcript Alleles

HGVS	Amino-acid change
ENST00000579028.2:c.1517+1003del	ENSP00000463827.2:n.1517+1003del
ENST00000584322.2:c.1935+1003del	ENSP00000463272.2:n.1935+1003del
ENST00000682066.1:c.1428+1003del	ENSP00000507191.1:n.1428+1003del
ENST00000682073.1:n.675+1003del
ENST00000682453.1:c.1935+1003del	ENSP00000506943.1:n.1935+1003del
ENST00000682477.1:c.*1361+1003del	ENSP00000507075.1:n.*1361+1003del
ENST00000682589.1:n.5117del
ENST00000682611.1:c.1429-480del	ENSP00000508326.1:n.1429-480del
ENST00000682755.1:c.1713+1003del	ENSP00000507660.1:n.1713+1003del
ENST00000682989.1:c.1935+1003del	ENSP00000507786.1:n.1935+1003del
ENST00000683039.1:c.1935+1003del	ENSP00000508303.1:n.1935+1003del
ENST00000683235.1:c.1935+1003del	ENSP00000507646.1:n.1935+1003del
ENST00000683381.1:c.1935+1003del	ENSP00000508184.1:n.1935+1003del
ENST00000684471.1:n.408+1003del
ENST00000684584.1:c.1428+1003del	ENSP00000508044.1:n.1428+1003del
ENST00000259008.7:c.1935+1003del MANE Select	ENSP00000259008.2:n.1935+1003del
ENST00000259008.6:c.1935+1003del	ENSP00000259008.2:n.1935+1003del
ENST00000577598.5:c.1935+1003del	ENSP00000464654.1:n.1935+1003del
ENST00000579028.1:c.628+1003del
ENST00000583837.5:n.17+1003del
NM_032043.2:c.1935+1003del , LRG_300t1:c.1935+1003del	NP_114432.2:n.1935+1003del
XM_011525332.1:c.1935+1003del	XP_011523634.1:n.1935+1003del
XM_011525333.1:c.1935+1003del	XP_011523635.1:n.1935+1003del
XM_011525334.1:c.1935+1003del	XP_011523636.1:n.1935+1003del
XM_011525335.1:c.1935+1003del	XP_011523637.1:n.1935+1003del
XM_011525336.1:c.1935+1003del	XP_011523638.1:n.1935+1003del
XM_011525337.1:c.1794+1582del	XP_011523639.1:n.1794+1582del
XM_011525338.1:c.1452+1003del	XP_011523640.1:n.1452+1003del
XM_011525339.1:c.1935+1003del	XP_011523641.1:n.1935+1003del
XM_011525340.1:c.1935+1003del	XP_011523642.1:n.1935+1003del
XM_011525341.1:c.1936-480del	XP_011523643.1:n.1936-480del
XM_011525332.3:c.1935+1003del	XP_011523634.1:n.1935+1003del
XM_011525333.3:c.1935+1003del	XP_011523635.1:n.1935+1003del
XM_011525334.2:c.1935+1003del	XP_011523636.1:n.1935+1003del
XM_011525335.3:c.1935+1003del	XP_011523637.1:n.1935+1003del
XM_011525336.2:c.1935+1003del	XP_011523638.1:n.1935+1003del
XM_011525337.2:c.1794+1582del	XP_011523639.1:n.1794+1582del
XM_011525338.2:c.1452+1003del	XP_011523640.1:n.1452+1003del
XM_011525339.3:c.1935+1003del	XP_011523641.1:n.1935+1003del
XM_011525340.3:c.1935+1003del	XP_011523642.1:n.1935+1003del
XM_011525341.3:c.1936-480del	XP_011523643.1:n.1936-480del
XM_017025200.1:c.1452+1003del	XP_016880689.1:n.1452+1003del
XM_017025201.1:c.1392+1003del	XP_016880690.1:n.1392+1003del
XM_017025202.1:c.-505del	XP_016880691.1:n.-505del
XM_017025203.1:c.-25-480del	XP_016880692.1:n.-25-480del
NM_032043.3:c.1935+1003del MANE Select	NP_114432.2:n.1935+1003del