Canonical Allele Identifier: CA10649739

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 324312
• ClinVar RCV Id: RCV000325094 ; RCV000365745
• dbSNP Id: rs768910110
• gnomAD v2: 17-59757841-C-CTTTTT
• gnomAD v3: 17-61680480-C-CTTTTT
• gnomAD v4: 17-61680480-C-CTTTTT
• MyVariant Identifiers: chr17:g.59757842_59757846dupTTTTT (hg19) ; chr17:g.59757841_59757842insTTTTT (hg19) ; chr17:g.61680481_61680485dupTTTTT (hg38) ; chr17:g.61680480_61680481insTTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61680493_61680497dup , CM000679.2:g.61680493_61680497dup	GRCh38
NC_000017.10:g.59757854_59757858dup , CM000679.1:g.59757854_59757858dup	GRCh37
NC_000017.9:g.57112636_57112640dup	NCBI36
NG_007409.2:g.188075_188079dup , LRG_300:g.188075_188079dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682755.1:c.*2811_*2815dup	ENSP00000507660.1:n.*2811_*2815dup
ENST00000259008.7:c.*2811_*2815dup MANE Select	ENSP00000259008.2:n.*2811_*2815dup
NM_032043.2:c.*2811_*2815dup , LRG_300t1:c.*2811_*2815dup	NP_114432.2:n.*2811_*2815dup
NM_032043.3:c.*2811_*2815dup MANE Select	NP_114432.2:n.*2811_*2815dup