Canonical Allele Identifier: CA2269130831
Gene: BRIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61683517_61683518delinsTT , CM000679.2:g.61683517_61683518delinsTT GRCh38
NC_000017.10:g.59760878_59760879delinsTT , CM000679.1:g.59760878_59760879delinsTT GRCh37
NC_000017.9:g.57115660_57115661delinsTT NCBI36
NG_007409.2:g.185042_185043delinsAA , LRG_300:g.185042_185043delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682073.1:n.2268_2269delinsAA
ENST00000682453.1:c.3528_3529delinsAA ENSP00000506943.1:p.Ile1176=
ENST00000682477.1:c.*2954_*2955delinsAA ENSP00000507075.1:n.*2954_*2955delinsAA
ENST00000682589.1:n.9405_9406delinsAA
ENST00000682755.1:c.3306_3307delinsAA ENSP00000507660.1:p.Ile1102=
ENST00000682989.1:c.*619_*620delinsAA ENSP00000507786.1:n.*619_*620delinsAA
ENST00000683039.1:c.3528_3529delinsAA ENSP00000508303.1:p.Ile1176=
ENST00000683235.1:c.*943_*944delinsAA ENSP00000507646.1:n.*943_*944delinsAA
ENST00000683535.1:n.1658_1659delinsAA
ENST00000684584.1:c.2691_2692delinsAA ENSP00000508044.1:p.Ile897=
ENST00000684626.1:n.1774_1775delinsAA
ENST00000684769.1:c.1718_1719delinsAA ENSP00000507691.1:n.1718_1719delinsAA
ENST00000259008.7:c.3528_3529delinsAA MANE Select ENSP00000259008.2:p.Ile1176=
ENST00000259008.6:c.3528_3529delinsAA ENSP00000259008.2:p.Ile1176=
NM_032043.2:c.3528_3529delinsAA , LRG_300t1:c.3528_3529delinsAA NP_114432.2:p.Ile1176=
XM_011525332.1:c.3588_3589delinsAA XP_011523634.1:p.Ile1196=
XM_011525333.1:c.3588_3589delinsAA XP_011523635.1:p.Ile1196=
XM_011525334.1:c.3588_3589delinsAA XP_011523636.1:p.Ile1196=
XM_011525335.1:c.3528_3529delinsAA XP_011523637.1:p.Ile1176=
XM_011525336.1:c.3468_3469delinsAA XP_011523638.1:p.Ile1156=
XM_011525337.1:c.3387_3388delinsAA XP_011523639.1:p.Ile1129=
XM_011525338.1:c.3105_3106delinsAA XP_011523640.1:p.Ile1035=
XM_011525332.3:c.3588_3589delinsAA XP_011523634.1:p.Ile1196=
XM_011525333.3:c.3588_3589delinsAA XP_011523635.1:p.Ile1196=
XM_011525334.2:c.3588_3589delinsAA XP_011523636.1:p.Ile1196=
XM_011525335.3:c.3528_3529delinsAA XP_011523637.1:p.Ile1176=
XM_011525336.2:c.3468_3469delinsAA XP_011523638.1:p.Ile1156=
XM_011525337.2:c.3387_3388delinsAA XP_011523639.1:p.Ile1129=
XM_011525338.2:c.3105_3106delinsAA XP_011523640.1:p.Ile1035=
XM_017025200.1:c.3045_3046delinsAA XP_016880689.1:p.Ile1015=
XM_017025201.1:c.3045_3046delinsAA XP_016880690.1:p.Ile1015=
XM_017025202.1:c.1674_1675delinsAA XP_016880691.1:p.Ile558=
XM_017025203.1:c.1674_1675delinsAA XP_016880692.1:p.Ile558=
NM_032043.3:c.3528_3529delinsAA MANE Select NP_114432.2:p.Ile1176=