Canonical Allele Identifier: CA2269130874
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683605_61683606delinsAT , CM000679.2:g.61683605_61683606delinsAT GRCh38
NC_000017.10:g.59760966_59760967delinsAT , CM000679.1:g.59760966_59760967delinsAT GRCh37
NC_000017.9:g.57115748_57115749delinsAT NCBI36
NG_007409.2:g.184954_184955delinsAT , LRG_300:g.184954_184955delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2180_2181delinsAT
ENST00000682453.1:c.3440_3441delinsAT ENSP00000506943.1:p.Asn1147=
ENST00000682477.1:c.*2866_*2867delinsAT ENSP00000507075.1:n.*2866_*2867delinsAT
ENST00000682589.1:n.9317_9318delinsAT
ENST00000682755.1:c.3218_3219delinsAT ENSP00000507660.1:p.Asn1073=
ENST00000682989.1:c.*531_*532delinsAT ENSP00000507786.1:n.*531_*532delinsAT
ENST00000683039.1:c.3440_3441delinsAT ENSP00000508303.1:p.Asn1147=
ENST00000683235.1:c.*855_*856delinsAT ENSP00000507646.1:n.*855_*856delinsAT
ENST00000683535.1:n.1570_1571delinsAT
ENST00000684584.1:c.2603_2604delinsAT ENSP00000508044.1:p.Asn868=
ENST00000684626.1:n.1686_1687delinsAT
ENST00000684769.1:c.1630_1631delinsAT ENSP00000507691.1:n.1630_1631delinsAT
ENST00000259008.7:c.3440_3441delinsAT MANE Select ENSP00000259008.2:p.Asn1147=
ENST00000259008.6:c.3440_3441delinsAT ENSP00000259008.2:p.Asn1147=
NM_032043.2:c.3440_3441delinsAT , LRG_300t1:c.3440_3441delinsAT NP_114432.2:p.Asn1147=
XM_011525332.1:c.3500_3501delinsAT XP_011523634.1:p.Asn1167=
XM_011525333.1:c.3500_3501delinsAT XP_011523635.1:p.Asn1167=
XM_011525334.1:c.3500_3501delinsAT XP_011523636.1:p.Asn1167=
XM_011525335.1:c.3440_3441delinsAT XP_011523637.1:p.Asn1147=
XM_011525336.1:c.3380_3381delinsAT XP_011523638.1:p.Asn1127=
XM_011525337.1:c.3299_3300delinsAT XP_011523639.1:p.Asn1100=
XM_011525338.1:c.3017_3018delinsAT XP_011523640.1:p.Asn1006=
XM_011525332.3:c.3500_3501delinsAT XP_011523634.1:p.Asn1167=
XM_011525333.3:c.3500_3501delinsAT XP_011523635.1:p.Asn1167=
XM_011525334.2:c.3500_3501delinsAT XP_011523636.1:p.Asn1167=
XM_011525335.3:c.3440_3441delinsAT XP_011523637.1:p.Asn1147=
XM_011525336.2:c.3380_3381delinsAT XP_011523638.1:p.Asn1127=
XM_011525337.2:c.3299_3300delinsAT XP_011523639.1:p.Asn1100=
XM_011525338.2:c.3017_3018delinsAT XP_011523640.1:p.Asn1006=
XM_017025200.1:c.2957_2958delinsAT XP_016880689.1:p.Asn986=
XM_017025201.1:c.2957_2958delinsAT XP_016880690.1:p.Asn986=
XM_017025202.1:c.1586_1587delinsAT XP_016880691.1:p.Asn529=
XM_017025203.1:c.1586_1587delinsAT XP_016880692.1:p.Asn529=
NM_032043.3:c.3440_3441delinsAT MANE Select NP_114432.2:p.Asn1147=