Canonical Allele Identifier: CA1306305385

Gene: LRP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.169154242_169154253delinsACCCCAGTGATC , CM000664.2:g.169154242_169154253delinsACCCCAGTGATC	GRCh38
NC_000002.11:g.170010752_170010763delinsACCCCAGTGATC , CM000664.1:g.170010752_170010763delinsACCCCAGTGATC	GRCh37
NC_000002.10:g.169718998_169719009delinsACCCCAGTGATC	NCBI36
NG_012634.1:g.213360_213371delinsGATCACTGGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649046.1:c.12295+207_12295+218delinsGATCACTGGGGT MANE Select	ENSP00000496870.1:n.12295+207_12295+218delinsGATCACTGGGGT
ENST00000649153.1:c.3195+207_3195+218delinsGATCACTGGGGT
ENST00000650252.1:c.1323+207_1323+218delinsGATCACTGGGGT	ENSP00000496887.1:n.1323+207_1323+218delinsGATCACTGGGGT
ENST00000263816.7:c.12295+207_12295+218delinsGATCACTGGGGT	ENSP00000263816.3:n.12295+207_12295+218delinsGATCACTGGGGT
NM_004525.2:c.12295+207_12295+218delinsGATCACTGGGGT	NP_004516.2:n.12295+207_12295+218delinsGATCACTGGGGT
XM_011511183.1:c.12166+207_12166+218delinsGATCACTGGGGT	XP_011509485.1:n.12166+207_12166+218delinsGATCACTGGGGT
XM_011511184.1:c.10006+207_10006+218delinsGATCACTGGGGT	XP_011509486.1:n.10006+207_10006+218delinsGATCACTGGGGT
NM_004525.3:c.12295+207_12295+218delinsGATCACTGGGGT MANE Select	NP_004516.2:n.12295+207_12295+218delinsGATCACTGGGGT
XM_011511183.3:c.12166+207_12166+218delinsGATCACTGGGGT	XP_011509485.1:n.12166+207_12166+218delinsGATCACTGGGGT
XM_011511184.2:c.10006+207_10006+218delinsGATCACTGGGGT	XP_011509486.1:n.10006+207_10006+218delinsGATCACTGGGGT