Canonical Allele Identifier: CA2580094449
Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2127109
ClinVar RCV Id: RCV003051996

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61685986_61685987delinsGA , CM000679.2:g.61685986_61685987delinsGA GRCh38
NC_000017.10:g.59763347_59763348delinsGA , CM000679.1:g.59763347_59763348delinsGA GRCh37
NC_000017.9:g.57118129_57118130delinsGA NCBI36
NG_007409.2:g.182573_182574delinsTC , LRG_300:g.182573_182574delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000682066.1:c.2884_2885delinsTC ENSP00000507191.1:n.2884_2885delinsTC
ENST00000682073.1:n.1494_1495delinsTC
ENST00000682433.1:n.1833_1834delinsTC
ENST00000682453.1:c.2754_2755delinsTC ENSP00000506943.1:p.Ser919Pro
ENST00000682477.1:c.*2180_*2181delinsTC ENSP00000507075.1:n.*2180_*2181delinsTC
ENST00000682589.1:n.8631_8632delinsTC
ENST00000682755.1:c.2532_2533delinsTC ENSP00000507660.1:p.Ser845Pro
ENST00000682989.1:c.2610-1847_2610-1846delinsTC ENSP00000507786.1:n.2610-1847_2610-1846de...
ENST00000683039.1:c.2754_2755delinsTC ENSP00000508303.1:p.Ser919Pro
ENST00000683235.1:c.*169_*170delinsTC ENSP00000507646.1:n.*169_*170delinsTC
ENST00000683535.1:n.884_885delinsTC
ENST00000684471.1:n.1167_1168delinsTC
ENST00000684584.1:c.2069-1847_2069-1846delinsTC ENSP00000508044.1:n.2069-1847_2069-1846de...
ENST00000684626.1:n.1000_1001delinsTC
ENST00000684769.1:c.944_945delinsTC ENSP00000507691.1:n.944_945delinsTC
ENST00000259008.7:c.2754_2755delinsTC MANE Select ENSP00000259008.2:p.Ser919Pro
ENST00000259008.6:c.2754_2755delinsTC ENSP00000259008.2:p.Ser919Pro
ENST00000577598.5:c.2754_2755delinsTC ENSP00000464654.1:p.Ser919Pro
NM_032043.2:c.2754_2755delinsTC , LRG_300t1:c.2754_2755delinsTC NP_114432.2:p.Ser919Pro
XM_011525332.1:c.2814_2815delinsTC XP_011523634.1:p.Ser939Pro
XM_011525333.1:c.2814_2815delinsTC XP_011523635.1:p.Ser939Pro
XM_011525334.1:c.2814_2815delinsTC XP_011523636.1:p.Ser939Pro
XM_011525335.1:c.2754_2755delinsTC XP_011523637.1:p.Ser919Pro
XM_011525336.1:c.2694_2695delinsTC XP_011523638.1:p.Ser899Pro
XM_011525337.1:c.2613_2614delinsTC XP_011523639.1:p.Ser872Pro
XM_011525338.1:c.2331_2332delinsTC XP_011523640.1:p.Ser778Pro
XM_011525332.3:c.2814_2815delinsTC XP_011523634.1:p.Ser939Pro
XM_011525333.3:c.2814_2815delinsTC XP_011523635.1:p.Ser939Pro
XM_011525334.2:c.2814_2815delinsTC XP_011523636.1:p.Ser939Pro
XM_011525335.3:c.2754_2755delinsTC XP_011523637.1:p.Ser919Pro
XM_011525336.2:c.2694_2695delinsTC XP_011523638.1:p.Ser899Pro
XM_011525337.2:c.2613_2614delinsTC XP_011523639.1:p.Ser872Pro
XM_011525338.2:c.2331_2332delinsTC XP_011523640.1:p.Ser778Pro
XM_017025200.1:c.2271_2272delinsTC XP_016880689.1:p.Ser758Pro
XM_017025201.1:c.2271_2272delinsTC XP_016880690.1:p.Ser758Pro
XM_017025202.1:c.900_901delinsTC XP_016880691.1:p.Ser301Pro
XM_017025203.1:c.900_901delinsTC XP_016880692.1:p.Ser301Pro
NM_032043.3:c.2754_2755delinsTC MANE Select NP_114432.2:p.Ser919Pro