Canonical Allele Identifier: CA2639153815

Gene: BRIP1

Linked Data

• ClinVar Variation Id: 2664917
• ClinVar RCV Id: RCV003447891 ; RCV003482170 ; RCV003778495
• gnomAD v4: 17-61683517-T-TAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61683517_61683518insAAA , CM000679.2:g.61683517_61683518insAAA	GRCh38
NC_000017.10:g.59760878_59760879insAAA , CM000679.1:g.59760878_59760879insAAA	GRCh37
NC_000017.9:g.57115660_57115661insAAA	NCBI36
NG_007409.2:g.185042_185043insTTT , LRG_300:g.185042_185043insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682073.1:n.2268_2269insTTT
ENST00000682453.1:c.3528_3529insTTT	ENSP00000506943.1:p.Ile1176_Lys1177insPhe
ENST00000682477.1:c.*2954_*2955insTTT	ENSP00000507075.1:n.*2954_*2955insTTT
ENST00000682589.1:n.9405_9406insTTT
ENST00000682755.1:c.3306_3307insTTT	ENSP00000507660.1:p.Ile1102_Lys1103insPhe
ENST00000682989.1:c.*619_*620insTTT	ENSP00000507786.1:n.*619_*620insTTT
ENST00000683039.1:c.3528_3529insTTT	ENSP00000508303.1:p.Ile1176_Lys1177insPhe
ENST00000683235.1:c.*943_*944insTTT	ENSP00000507646.1:n.*943_*944insTTT
ENST00000683535.1:n.1658_1659insTTT
ENST00000684584.1:c.2691_2692insTTT	ENSP00000508044.1:p.Ile897_Lys898insPhe
ENST00000684626.1:n.1774_1775insTTT
ENST00000684769.1:c.1718_1719insTTT	ENSP00000507691.1:n.1718_1719insTTT
ENST00000259008.7:c.3528_3529insTTT MANE Select	ENSP00000259008.2:p.Ile1176_Lys1177insPhe
ENST00000259008.6:c.3528_3529insTTT	ENSP00000259008.2:p.Ile1176_Lys1177insPhe
NM_032043.2:c.3528_3529insTTT , LRG_300t1:c.3528_3529insTTT	NP_114432.2:p.Ile1176_Lys1177insPhe
XM_011525332.1:c.3588_3589insTTT	XP_011523634.1:p.Ile1196_Lys1197insPhe
XM_011525333.1:c.3588_3589insTTT	XP_011523635.1:p.Ile1196_Lys1197insPhe
XM_011525334.1:c.3588_3589insTTT	XP_011523636.1:p.Ile1196_Lys1197insPhe
XM_011525335.1:c.3528_3529insTTT	XP_011523637.1:p.Ile1176_Lys1177insPhe
XM_011525336.1:c.3468_3469insTTT	XP_011523638.1:p.Ile1156_Lys1157insPhe
XM_011525337.1:c.3387_3388insTTT	XP_011523639.1:p.Ile1129_Lys1130insPhe
XM_011525338.1:c.3105_3106insTTT	XP_011523640.1:p.Ile1035_Lys1036insPhe
XM_011525332.3:c.3588_3589insTTT	XP_011523634.1:p.Ile1196_Lys1197insPhe
XM_011525333.3:c.3588_3589insTTT	XP_011523635.1:p.Ile1196_Lys1197insPhe
XM_011525334.2:c.3588_3589insTTT	XP_011523636.1:p.Ile1196_Lys1197insPhe
XM_011525335.3:c.3528_3529insTTT	XP_011523637.1:p.Ile1176_Lys1177insPhe
XM_011525336.2:c.3468_3469insTTT	XP_011523638.1:p.Ile1156_Lys1157insPhe
XM_011525337.2:c.3387_3388insTTT	XP_011523639.1:p.Ile1129_Lys1130insPhe
XM_011525338.2:c.3105_3106insTTT	XP_011523640.1:p.Ile1035_Lys1036insPhe
XM_017025200.1:c.3045_3046insTTT	XP_016880689.1:p.Ile1015_Lys1016insPhe
XM_017025201.1:c.3045_3046insTTT	XP_016880690.1:p.Ile1015_Lys1016insPhe
XM_017025202.1:c.1674_1675insTTT	XP_016880691.1:p.Ile558_Lys559insPhe
XM_017025203.1:c.1674_1675insTTT	XP_016880692.1:p.Ile558_Lys559insPhe
NM_032043.3:c.3528_3529insTTT MANE Select	NP_114432.2:p.Ile1176_Lys1177insPhe