Canonical Allele Identifier: CA10650603

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 324307
• ClinVar RCV Id: RCV000336035 ; RCV000390457
• dbSNP Id: rs886053202
• MyVariant Identifiers: chr17:g.59757839_59757840insTCTTTC (hg19) ; chr17:g.61680478_61680479insTCTTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61680483_61680484insCTCTTT , CM000679.2:g.61680483_61680484insCTCTTT	GRCh38
NC_000017.10:g.59757844_59757845insCTCTTT , CM000679.1:g.59757844_59757845insCTCTTT	GRCh37
NC_000017.9:g.57112626_57112627insCTCTTT	NCBI36
NG_007409.2:g.188081_188082insGAAAGA , LRG_300:g.188081_188082insGAAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682755.1:c.*2817_*2818insGAAAGA	ENSP00000507660.1:n.*2817_*2818insGAAAGA
ENST00000259008.7:c.*2817_*2818insGAAAGA MANE Select	ENSP00000259008.2:n.*2817_*2818insGAAAGA
NM_032043.2:c.*2817_*2818insGAAAGA , LRG_300t1:c.*2817_*2818insGAAAGA	NP_114432.2:n.*2817_*2818insGAAAGA
NM_032043.3:c.*2817_*2818insGAAAGA MANE Select	NP_114432.2:n.*2817_*2818insGAAAGA