Canonical Allele Identifier: CA2598073571

Gene: LRP8

Linked Data

• gnomAD v3: 1-53246973-GCATGGGACTGAATTC-G
• gnomAD v4: 1-53246973-GCATGGGACTGAATTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53246978_53246992del , CM000663.2:g.53246978_53246992del	GRCh38
NC_000001.10:g.53712650_53712664del , CM000663.1:g.53712650_53712664del	GRCh37
NC_000001.9:g.53485238_53485252del	NCBI36
NG_011517.2:g.86162_86176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306052.12:c.*30_*44del MANE Select	ENSP00000303634.6:n.*30_*44del
ENST00000465675.6:c.2556_2570del	ENSP00000437009.2:n.2556_2570del
ENST00000480045.6:c.*1087_*1101del	ENSP00000433554.2:n.*1087_*1101del
ENST00000529670.6:c.460_474del
ENST00000653217.1:c.2457_2471del	ENSP00000499777.1:n.2457_2471del
ENST00000653810.1:c.1643_1657del
ENST00000654834.1:n.2382_2396del
ENST00000654947.1:c.424_438del	ENSP00000499442.1:n.424_438del
ENST00000656486.1:c.2052_2066del	ENSP00000499708.1:n.2052_2066del
ENST00000657047.1:c.766_780del
ENST00000657895.1:c.*30_*44del	ENSP00000499764.1:n.*30_*44del
ENST00000658277.1:c.*30_*44del	ENSP00000499550.1:n.*30_*44del
ENST00000658404.1:n.2250_2264del
ENST00000661457.1:c.*2141_*2155del	ENSP00000499547.1:n.*2141_*2155del
ENST00000662198.1:c.*30_*44del	ENSP00000499355.1:n.*30_*44del
ENST00000662604.1:c.*30_*44del	ENSP00000499486.1:n.*30_*44del
ENST00000662802.1:c.684_698del
ENST00000667377.1:c.2677-1007_2677-993del	ENSP00000499405.1:n.2677-1007_2677-993del
ENST00000668071.1:c.2329_2343del
ENST00000668448.1:c.*30_*44del	ENSP00000499273.1:n.*30_*44del
ENST00000668991.1:n.2635_2649del
ENST00000669432.1:n.9386_9400del
ENST00000306052.10:c.*30_*44del	ENSP00000303634.6:n.*30_*44del
ENST00000354412.7:c.2133_2147del	ENSP00000346391.3:n.2133_2147del
ENST00000371454.6:c.*30_*44del	ENSP00000360509.2:n.*30_*44del
ENST00000465675.5:c.*30_*44del	ENSP00000437009.1:n.*30_*44del
ENST00000480045.5:c.*1864_*1878del	ENSP00000433554.1:n.*1864_*1878del
ENST00000529670.5:c.395_409del
ENST00000613948.4:c.2130_2144del	ENSP00000480025.1:n.2130_2144del
NM_001018054.2:c.*30_*44del	NP_001018064.1:n.*30_*44del
NM_004631.4:c.*30_*44del	NP_004622.2:n.*30_*44del
NM_017522.4:c.*30_*44del	NP_059992.3:n.*30_*44del
NM_033300.3:c.*30_*44del	NP_150643.2:n.*30_*44del
XM_005271173.2:c.*30_*44del	XP_005271230.1:n.*30_*44del
XM_005271174.2:c.*30_*44del	XP_005271231.1:n.*30_*44del
XM_005271175.2:c.*30_*44del	XP_005271232.1:n.*30_*44del
XM_006710881.2:c.*30_*44del	XP_006710944.1:n.*30_*44del
XM_006710882.2:c.*30_*44del	XP_006710945.1:n.*30_*44del
XM_011542094.1:c.*30_*44del	XP_011540396.1:n.*30_*44del
XM_011542095.1:c.*30_*44del	XP_011540397.1:n.*30_*44del
XM_011542097.1:c.*30_*44del	XP_011540399.1:n.*30_*44del
XM_005271173.4:c.*30_*44del	XP_005271230.1:n.*30_*44del
XM_005271174.3:c.*30_*44del	XP_005271231.1:n.*30_*44del
XM_005271175.3:c.*30_*44del	XP_005271232.1:n.*30_*44del
XM_006710881.4:c.*30_*44del	XP_006710944.1:n.*30_*44del
XM_006710882.4:c.*30_*44del	XP_006710945.1:n.*30_*44del
XM_011542094.2:c.*30_*44del	XP_011540396.1:n.*30_*44del
XM_011542095.2:c.*30_*44del	XP_011540397.1:n.*30_*44del
XM_017002265.1:c.*30_*44del	XP_016857754.1:n.*30_*44del
XM_017002266.2:c.*30_*44del	XP_016857755.1:n.*30_*44del
XM_017002267.1:c.*30_*44del	XP_016857756.1:n.*30_*44del
XM_017002268.1:c.*30_*44del	XP_016857757.1:n.*30_*44del
NM_001018054.3:c.*30_*44del	NP_001018064.1:n.*30_*44del
NM_004631.5:c.*30_*44del MANE Select	NP_004622.2:n.*30_*44del
NM_017522.5:c.*30_*44del	NP_059992.3:n.*30_*44del
NM_033300.4:c.*30_*44del	NP_150643.2:n.*30_*44del