Canonical Allele Identifier: CA2639153820
Gene: BRIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683581_61683582insA , CM000679.2:g.61683581_61683582insA GRCh38
NC_000017.10:g.59760942_59760943insA , CM000679.1:g.59760942_59760943insA GRCh37
NC_000017.9:g.57115724_57115725insA NCBI36
NG_007409.2:g.184978_184979insT , LRG_300:g.184978_184979insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2204_2205insT
ENST00000682453.1:c.3464_3465insT ENSP00000506943.1:p.Asn1156LysfsTer2
ENST00000682477.1:c.*2890_*2891insT ENSP00000507075.1:n.*2890_*2891insT
ENST00000682589.1:n.9341_9342insT
ENST00000682755.1:c.3242_3243insT ENSP00000507660.1:p.Asn1082LysfsTer2
ENST00000682989.1:c.*555_*556insT ENSP00000507786.1:n.*555_*556insT
ENST00000683039.1:c.3464_3465insT ENSP00000508303.1:p.Asn1156LysfsTer2
ENST00000683235.1:c.*879_*880insT ENSP00000507646.1:n.*879_*880insT
ENST00000683535.1:n.1594_1595insT
ENST00000684584.1:c.2627_2628insT ENSP00000508044.1:p.Asn877LysfsTer2
ENST00000684626.1:n.1710_1711insT
ENST00000684769.1:c.1654_1655insT ENSP00000507691.1:n.1654_1655insT
ENST00000259008.7:c.3464_3465insT MANE Select ENSP00000259008.2:p.Asn1156LysfsTer2
ENST00000259008.6:c.3464_3465insT ENSP00000259008.2:p.Asn1156LysfsTer2
NM_032043.2:c.3464_3465insT , LRG_300t1:c.3464_3465insT NP_114432.2:p.Asn1156LysfsTer2
XM_011525332.1:c.3524_3525insT XP_011523634.1:p.Asn1176LysfsTer2
XM_011525333.1:c.3524_3525insT XP_011523635.1:p.Asn1176LysfsTer2
XM_011525334.1:c.3524_3525insT XP_011523636.1:p.Asn1176LysfsTer2
XM_011525335.1:c.3464_3465insT XP_011523637.1:p.Asn1156LysfsTer2
XM_011525336.1:c.3404_3405insT XP_011523638.1:p.Asn1136LysfsTer2
XM_011525337.1:c.3323_3324insT XP_011523639.1:p.Asn1109LysfsTer2
XM_011525338.1:c.3041_3042insT XP_011523640.1:p.Asn1015LysfsTer2
XM_011525332.3:c.3524_3525insT XP_011523634.1:p.Asn1176LysfsTer2
XM_011525333.3:c.3524_3525insT XP_011523635.1:p.Asn1176LysfsTer2
XM_011525334.2:c.3524_3525insT XP_011523636.1:p.Asn1176LysfsTer2
XM_011525335.3:c.3464_3465insT XP_011523637.1:p.Asn1156LysfsTer2
XM_011525336.2:c.3404_3405insT XP_011523638.1:p.Asn1136LysfsTer2
XM_011525337.2:c.3323_3324insT XP_011523639.1:p.Asn1109LysfsTer2
XM_011525338.2:c.3041_3042insT XP_011523640.1:p.Asn1015LysfsTer2
XM_017025200.1:c.2981_2982insT XP_016880689.1:p.Asn995LysfsTer2
XM_017025201.1:c.2981_2982insT XP_016880690.1:p.Asn995LysfsTer2
XM_017025202.1:c.1610_1611insT XP_016880691.1:p.Asn538LysfsTer2
XM_017025203.1:c.1610_1611insT XP_016880692.1:p.Asn538LysfsTer2
NM_032043.3:c.3464_3465insT MANE Select NP_114432.2:p.Asn1156LysfsTer2