Canonical Allele Identifier: CA10583617

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 241648
• ClinVar RCV Id: RCV001293609 ; RCV001731542 ; RCV003463685
• dbSNP Id: rs878855151
• gnomAD v2: 17-59761413-CTT-C
• gnomAD v4: 17-61684052-CTT-C
• MyVariant Identifiers: chr17:g.59761414_59761415del (hg19) ; chr17:g.59761415_59761417delinsG (hg19) ; chr17:g.61684053_61684054del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61684054_61684055del , CM000679.2:g.61684054_61684055del	GRCh38
NC_000017.10:g.59761415_59761416del , CM000679.1:g.59761415_59761416del	GRCh37
NC_000017.9:g.57116197_57116198del	NCBI36
NG_007409.2:g.184506_184507del , LRG_300:g.184506_184507del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682073.1:n.1732_1733del
ENST00000682453.1:c.2992_2993del	ENSP00000506943.1:p.Lys998GlufsTer3
ENST00000682477.1:c.*2418_*2419del	ENSP00000507075.1:n.*2418_*2419del
ENST00000682589.1:n.8869_8870del
ENST00000682755.1:c.2770_2771del	ENSP00000507660.1:p.Lys924GlufsTer3
ENST00000682989.1:c.*83_*84del	ENSP00000507786.1:n.*83_*84del
ENST00000683039.1:c.2992_2993del	ENSP00000508303.1:p.Lys998GlufsTer3
ENST00000683235.1:c.*407_*408del	ENSP00000507646.1:n.*407_*408del
ENST00000683535.1:n.1122_1123del
ENST00000684584.1:c.2155_2156del	ENSP00000508044.1:p.Lys719GlufsTer3
ENST00000684626.1:n.1238_1239del
ENST00000684769.1:c.1182_1183del	ENSP00000507691.1:n.1182_1183del
ENST00000259008.7:c.2992_2993del MANE Select	ENSP00000259008.2:p.Lys998GlufsTer3
ENST00000259008.6:c.2992_2993del	ENSP00000259008.2:p.Lys998GlufsTer3
NM_032043.2:c.2992_2993del , LRG_300t1:c.2992_2993del	NP_114432.2:p.Lys998GlufsTer3
XM_011525332.1:c.3052_3053del	XP_011523634.1:p.Lys1018GlufsTer3
XM_011525333.1:c.3052_3053del	XP_011523635.1:p.Lys1018GlufsTer3
XM_011525334.1:c.3052_3053del	XP_011523636.1:p.Lys1018GlufsTer3
XM_011525335.1:c.2992_2993del	XP_011523637.1:p.Lys998GlufsTer3
XM_011525336.1:c.2932_2933del	XP_011523638.1:p.Lys978GlufsTer3
XM_011525337.1:c.2851_2852del	XP_011523639.1:p.Lys951GlufsTer3
XM_011525338.1:c.2569_2570del	XP_011523640.1:p.Lys857GlufsTer3
XM_011525332.3:c.3052_3053del	XP_011523634.1:p.Lys1018GlufsTer3
XM_011525333.3:c.3052_3053del	XP_011523635.1:p.Lys1018GlufsTer3
XM_011525334.2:c.3052_3053del	XP_011523636.1:p.Lys1018GlufsTer3
XM_011525335.3:c.2992_2993del	XP_011523637.1:p.Lys998GlufsTer3
XM_011525336.2:c.2932_2933del	XP_011523638.1:p.Lys978GlufsTer3
XM_011525337.2:c.2851_2852del	XP_011523639.1:p.Lys951GlufsTer3
XM_011525338.2:c.2569_2570del	XP_011523640.1:p.Lys857GlufsTer3
XM_017025200.1:c.2509_2510del	XP_016880689.1:p.Lys837GlufsTer3
XM_017025201.1:c.2509_2510del	XP_016880690.1:p.Lys837GlufsTer3
XM_017025202.1:c.1138_1139del	XP_016880691.1:p.Lys380GlufsTer3
XM_017025203.1:c.1138_1139del	XP_016880692.1:p.Lys380GlufsTer3
NM_032043.3:c.2992_2993del MANE Select	NP_114432.2:p.Lys998GlufsTer3